[
{
"diseaseId": 652,
"name": "Myasthenic syndrome, congenital, 16; CMS16",
"description": "",
"synonyms": [
{
"name": "Congenital myasthenic syndrome"
},
{
"name": "Myasthenic syndrome, congenital, acetazolamide-responsive"
},
{
"name": "Postsynaptic congenital myasthenic syndromes"
}
],
"databaseLinks": [
{
"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
},
{
"accession": "614198",
"database": "OMIM",
"url": "https://www.omim.org/entry/614198",
"species": "Human"
},
{
"accession": "ORPHA98913",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
"species": "Human"
},
{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
}
]
},
{
"diseaseId": 273,
"name": "Deafness, autosomal recessive 30; DFNB30",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive nonsyndromic deafness"
},
{
"name": "Autosomal recessive non-syndromic sensorineural deafness type DFNB"
}
],
"databaseLinks": [
{
"accession": "DOID:0050565",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050565",
"species": "Human"
},
{
"accession": "607101",
"database": "OMIM",
"url": "https://www.omim.org/entry/607101",
"species": "Human"
},
{
"accession": "ORPHA90636",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90636",
"species": "Human"
}
]
},
{
"diseaseId": 51,
"name": "Aleukemic mast cell leukemia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA158799",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158799",
"species": "Human"
}
]
},
{
"diseaseId": 1091,
"name": "Tatton-Brown-Rahman syndrome; TBRS",
"description": "",
"synonyms": [
{
"name": "Tall stature-intellectual disability-facial dysmorphism syndrome"
}
],
"databaseLinks": [
{
"accession": "615879",
"database": "OMIM",
"url": "https://www.omim.org/entry/615879",
"species": "Human"
},
{
"accession": "ORPHA404443",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=404443",
"species": "Human"
}
]
},
{
"diseaseId": 951,
"name": "West nile virus, susceptibility to",
"description": "",
"synonyms": [
{
"name": "West Nile virus infectious disease"
}
],
"databaseLinks": [
{
"accession": "DOID:4121",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4121",
"species": "Human"
},
{
"accession": "610379",
"database": "OMIM",
"url": "https://www.omim.org/entry/610379",
"species": "Human"
}
]
},
{
"diseaseId": 839,
"name": "Schizophrenia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:5419",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5419",
"species": "Human"
},
{
"accession": "181500",
"database": "OMIM",
"url": "https://www.omim.org/entry/181500",
"species": "Human"
},
{
"accession": "ORPHA3140",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3140",
"species": "Human"
}
]
},
{
"diseaseId": 70,
"name": "Angina pectoris",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1075,
"name": "Systemic lupus erythematosus, susceptibility to, 1; SLEB1",
"description": "",
"synonyms": [
{
"name": "Systemic lupus erythematosus"
}
],
"databaseLinks": [
{
"accession": "DOID:9074",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9074",
"species": "Human"
},
{
"accession": "601744",
"database": "OMIM",
"url": "https://www.omim.org/entry/601744",
"species": "Human"
}
]
},
{
"diseaseId": 350,
"name": "Exudative vitreoretinopathy 1; EVR1",
"description": "",
"synonyms": [
{
"name": "Exudative vitreoretinopathy"
},
{
"name": "Familial exudative vitreoretinopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:0050535",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050535",
"species": "Human"
},
{
"accession": "133780",
"database": "OMIM",
"url": "https://www.omim.org/entry/133780",
"species": "Human"
},
{
"accession": "ORPHA891",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=891",
"species": "Human"
}
]
},
{
"diseaseId": 758,
"name": "Plaque-form urticaria pigmentosa",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA158769",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158769",
"species": "Human"
}
]
},
{
"diseaseId": 539,
"name": "Lennox-Gastaut syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050561",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050561",
"species": "Human"
},
{
"accession": "ORPHA2382",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2382",
"species": "Human"
}
]
},
{
"diseaseId": 1108,
"name": "Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A",
"description": "",
"synonyms": [
{
"name": "Congenital myasthenic syndrome"
},
{
"name": "Postsynaptic congenital myasthenic syndromes"
}
],
"databaseLinks": [
{
"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
},
{
"accession": "605809",
"database": "OMIM",
"url": "https://www.omim.org/entry/605809",
"species": "Human"
},
{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
},
{
"accession": "ORPHA98913",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
"species": "Human"
}
]
},
{
"diseaseId": 1128,
"name": "Obsessive-compulsive disorder; OCD",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:10933",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10933",
"species": "Human"
},
{
"accession": "164230",
"database": "OMIM",
"url": "https://www.omim.org/entry/164230",
"species": "Human"
}
]
},
{
"diseaseId": 1284,
"name": "Familial Hyperaldosteronism Type IV",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "607904",
"database": "OMIM",
"url": "https://www.omim.org/entry/607904",
"species": "Human"
}
]
},
{
"diseaseId": 874,
"name": "Spinal and bulbar muscular atrophy, X-linked 1; SMAX1",
"description": "",
"synonyms": [
{
"name": "Kennedy disease"
},
{
"name": "Kennedy's disease"
}
],
"databaseLinks": [
{
"accession": "DOID:0060161",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060161",
"species": "Human"
},
{
"accession": "313200",
"database": "OMIM",
"url": "https://www.omim.org/entry/313200",
"species": "Human"
},
{
"accession": "ORPHA481",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=481",
"species": "Human"
}
]
},
{
"diseaseId": 278,
"name": "Diabetes mellitus, insulin-dependent, 22; IDDM22",
"synonyms": [
],
"databaseLinks": [
{
"accession": "612522",
"database": "OMIM",
"url": "https://www.omim.org/entry/612522",
"species": "Human"
}
]
},
{
"diseaseId": 1136,
"name": "Sjögren's syndrome",
"description": "Sjögren's syndrome is a chronic autoimmune disorder characterized by the triad of dry eyes (keratoconjunctiva sicca), sensation of oral dryness (xerostomia) and/or swelling of the salivary glands secondary to lymphocytic infiltration and destruction of the exocrine glands.",
"synonyms": [
{
"name": "Sicca syndrome"
},
{
"name": "Sjögren-Gougerot syndrome"
}
],
"databaseLinks": [
{
"accession": "ORPHA378",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=378",
"species": "Human"
}
]
},
{
"diseaseId": 946,
"name": "Vitamin D-dependent rickets, type 2A",
"description": "",
"synonyms": [
{
"name": "Hypocalcemic vitamin D-resistant rickets"
},
{
"name": "Rickets"
}
],
"databaseLinks": [
{
"accession": "DOID:10609",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10609",
"species": "Human"
},
{
"accession": "277440",
"database": "OMIM",
"url": "https://www.omim.org/entry/277440",
"species": "Human"
},
{
"accession": "ORPHA93160",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93160",
"species": "Human"
}
]
},
{
"diseaseId": 176,
"name": "Carboxypeptidase N deficiency",
"synonyms": [
],
"databaseLinks": [
{
"accession": "212070",
"database": "OMIM",
"url": "https://www.omim.org/entry/212070",
"species": "Human"
}
]
},
{
"diseaseId": 576,
"name": "Lymphoadenopathic mastocytosis with eosinophilia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA158793",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158793",
"species": "Human"
}
]
},
{
"diseaseId": 1003,
"name": "Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia; ALS22",
"description": "",
"synonyms": [
{
"name": "Amyotrophic lateral sclerosis"
}
],
"databaseLinks": [
{
"accession": "DOID:332",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_332",
"species": "Human"
},
{
"accession": "616208",
"database": "OMIM",
"url": "https://www.omim.org/entry/616208",
"species": "Human"
}
]
},
{
"diseaseId": 1045,
"name": "Bare lymphocyte syndrome, type II",
"description": "",
"synonyms": [
{
"name": "Immunodeficiency by defective expression of HLA class 2"
}
],
"databaseLinks": [
{
"accession": "209920",
"database": "OMIM",
"url": "https://www.omim.org/entry/209920",
"species": "Human"
},
{
"accession": "ORPHA572",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=572",
"species": "Human"
}
]
},
{
"diseaseId": 292,
"name": "Prune belly syndrome",
"description": "",
"synonyms": [
{
"name": "Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism"
},
{
"name": "Eagle-Barrett syndrome"
}
],
"databaseLinks": [
{
"accession": "100100",
"database": "OMIM",
"url": "https://www.omim.org/entry/100100",
"species": "Human"
},
{
"accession": "ORPHA2970",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2970",
"species": "Human"
}
]
},
{
"diseaseId": 929,
"name": "Tobacco addiction, susceptibility to",
"synonyms": [
],
"databaseLinks": [
{
"accession": "188890",
"database": "OMIM",
"url": "https://www.omim.org/entry/188890",
"species": "Human"
}
]
},
{
"diseaseId": 663,
"name": "Myoclonic dystonia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "159900",
"database": "OMIM",
"url": "https://www.omim.org/entry/159900",
"species": "Human"
},
{
"accession": "ORPHA36899",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36899",
"species": "Human"
}
]
},
{
"diseaseId": 770,
"name": "Myotonia, Potassium-Aggravated",
"description": "",
"synonyms": [
{
"name": "Acetazolamide-responsive myotonia"
},
{
"name": "Myotonia fluctuans"
},
{
"name": "Myotonia permanens"
}
],
"databaseLinks": [
{
"accession": "608390",
"database": "OMIM",
"url": "https://www.omim.org/entry/608390",
"species": "Human"
},
{
"accession": "ORPHA99735",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99735",
"species": "Human"
},
{
"accession": "ORPHA99736",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99736",
"species": "Human"
},
{
"accession": "ORPHA99734",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99734",
"species": "Human"
}
]
},
{
"diseaseId": 271,
"name": "Deafness, autosomal dominant 2A; DFNA2A",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant nonsyndromic deafness"
},
{
"name": "Autosomal dominant non-syndromic sensorineural deafness type DFNA"
}
],
"databaseLinks": [
{
"accession": "DOID:0050564",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050564",
"species": "Human"
},
{
"accession": "600101",
"database": "OMIM",
"url": "https://www.omim.org/entry/600101",
"species": "Human"
},
{
"accession": "ORPHA90635",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90635",
"species": "Human"
}
]
},
{
"diseaseId": 22,
"name": "Achromatopsia 2; ACHM2",
"description": "",
"synonyms": [
{
"name": "Achromatopsia"
}
],
"databaseLinks": [
{
"accession": "DOID:13911",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13911",
"species": "Human"
},
{
"accession": "216900",
"database": "OMIM",
"url": "https://www.omim.org/entry/216900",
"species": "Human"
},
{
"accession": "ORPHA49382",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=49382",
"species": "Human"
}
]
},
{
"diseaseId": 417,
"name": "Mild hemophilia A",
"description": "",
"synonyms": [
{
"name": "Hemophilia A; HEMA"
}
],
"databaseLinks": [
{
"accession": "306700",
"database": "OMIM",
"url": "https://www.omim.org/entry/306700",
"species": "Human"
},
{
"accession": "ORPHA169808",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169808",
"species": "Human"
}
]
},
{
"diseaseId": 764,
"name": "Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "611087",
"database": "OMIM",
"url": "https://www.omim.org/entry/611087",
"species": "Human"
}
]
},
{
"diseaseId": 556,
"name": "Lipomyelocele",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1175,
"name": "Juvenile idiopathic arthritis- polyarticular",
"description": "The largest subtype of juvenile idiopathic arthritis which affects multiple joints. Biologic drugs approved to treat polyarticular JIA include adalimumab, abatacept, etanercept and tocilizumab.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 529,
"name": "King-Denborough syndrome",
"synonyms": [
],
"databaseLinks": [
{
"accession": "145600",
"database": "OMIM",
"url": "https://www.omim.org/entry/145600",
"species": "Human"
},
{
"accession": "ORPHA99741",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99741",
"species": "Human"
}
]
},
{
"diseaseId": 1268,
"name": "Arrhythmogenic cardiomyopathy",
"description": "Activation of inflammatory signalling is a prominent feature of arrhythmogenic cardiomyopathy (ACM), and appears to drive key features of the disease.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 638,
"name": "Mosaic variegated aneuploidy syndrome 1; MVA1",
"description": "",
"synonyms": [
{
"name": "Mosaic variegated aneuploidy syndrome"
}
],
"databaseLinks": [
{
"accession": "257300",
"database": "OMIM",
"url": "https://www.omim.org/entry/257300",
"species": "Human"
},
{
"accession": "ORPHA1052",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1052",
"species": "Human"
}
]
},
{
"diseaseId": 791,
"name": "Prostate cancer/brain cancer susceptibility",
"synonyms": [
],
"databaseLinks": [
{
"accession": "603688",
"database": "OMIM",
"url": "https://www.omim.org/entry/603688",
"species": "Human"
},
{
"accession": "ORPHA1331",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1331",
"species": "Human"
}
]
},
{
"diseaseId": 775,
"name": "Pregnancy loss, recurrent, susceptibility to, 1",
"synonyms": [
],
"databaseLinks": [
{
"accession": "614389",
"database": "OMIM",
"url": "https://www.omim.org/entry/614389",
"species": "Human"
}
]
},
{
"diseaseId": 940,
"name": "Unilateral renal dysplasia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA93172",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93172",
"species": "Human"
}
]
},
{
"diseaseId": 390,
"name": "Generalized epilepsy with febrile seizures plus; type 3; GEFSP3",
"description": "",
"synonyms": [
{
"name": "Generalized epilepsy with febrile seizures-plus"
}
],
"databaseLinks": [
{
"accession": "DOID:0060170",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060170",
"species": "Human"
},
{
"accession": "611277",
"database": "OMIM",
"url": "https://www.omim.org/entry/611277",
"species": "Human"
},
{
"accession": "ORPHA36387",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36387",
"species": "Human"
}
]
},
{
"diseaseId": 173,
"name": "Camptodactyly, tall stature, and hearing loss syndrome",
"description": "",
"synonyms": [
{
"name": "Camptodactyly - tall stature - scoliosis - hearing loss"
}
],
"databaseLinks": [
{
"accession": "610474",
"database": "OMIM",
"url": "https://www.omim.org/entry/610474",
"species": "Human"
},
{
"accession": "ORPHA85164",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85164",
"species": "Human"
}
]
},
{
"diseaseId": 1018,
"name": "Dermatitis",
"description": "Includes atopic, seborrhoeic, and contact dermatitis.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2723",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2723",
"species": "Human"
}
]
},
{
"diseaseId": 42,
"name": "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete",
"description": "",
"synonyms": [
{
"name": "46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency"
},
{
"name": "Congenital adrenal insufficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:0050546",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050546",
"species": "Human"
},
{
"accession": "613743",
"database": "OMIM",
"url": "https://www.omim.org/entry/613743",
"species": "Human"
},
{
"accession": "ORPHA168558",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168558",
"species": "Human"
}
]
},
{
"diseaseId": 1263,
"name": "Severe congenital neutropenia",
"description": "Severe congenital neutropenia (SCN) is a heterogeneous disorder of hematopoiesis. The resulting subnormal neutrophil counts lead to early onset of severe bacterial infections. SCN can be caused by mutations in several genes including ELANE, GFI1, HAX1, G6PC3, VPS45, WASP and CSF3R. SCN1 is the commonest subtype and is caused by autosomal dominant inheritance of a defective ELANE gene.",
"synonyms": [
{
"name": "Kostmann syndrome"
}
],
"databaseLinks": [
{
"accession": "202700",
"database": "OMIM",
"url": "https://www.omim.org/entry/202700",
"species": "Human"
},
{
"accession": "617014",
"database": "OMIM",
"url": "https://www.omim.org/entry/617014",
"species": "Human"
},
{
"accession": "610738",
"database": "OMIM",
"url": "https://www.omim.org/entry/610738",
"species": "Human"
},
{
"accession": "613107",
"database": "OMIM",
"url": "https://www.omim.org/entry/613107",
"species": "Human"
},
{
"accession": "612541",
"database": "OMIM",
"url": "https://www.omim.org/entry/612541",
"species": "Human"
},
{
"accession": "615285",
"database": "OMIM",
"url": "https://www.omim.org/entry/615285",
"species": "Human"
},
{
"accession": "300299",
"database": "OMIM",
"url": "https://www.omim.org/entry/300299",
"species": "Human"
},
{
"accession": "616022",
"database": "OMIM",
"url": "https://www.omim.org/entry/616022",
"species": "Human"
}
]
},
{
"diseaseId": 189,
"name": "Cardiovascular disease",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 876,
"name": "Spinocerebellar ataxia 11; SCA11",
"description": "",
"synonyms": [
{
"name": "Spinocerebellar ataxia"
}
],
"databaseLinks": [
{
"accession": "DOID:1441",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1441",
"species": "Human"
},
{
"accession": "604432",
"database": "OMIM",
"url": "https://www.omim.org/entry/604432",
"species": "Human"
},
{
"accession": "ORPHA98767",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98767",
"species": "Human"
}
]
},
{
"diseaseId": 113,
"name": "Spinal muscular atrophy, distal, congenital nonprogressive",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant congenital benign spinal muscular atrophy"
}
],
"databaseLinks": [
{
"accession": "600175",
"database": "OMIM",
"url": "https://www.omim.org/entry/600175",
"species": "Human"
},
{
"accession": "ORPHA1216",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1216",
"species": "Human"
}
]
},
{
"diseaseId": 632,
"name": "Mild phenylketonuria",
"description": "",
"synonyms": [
{
"name": "Phenylketonuria"
}
],
"databaseLinks": [
{
"accession": "DOID:9281",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9281",
"species": "Human"
},
{
"accession": "261600",
"database": "OMIM",
"url": "https://www.omim.org/entry/261600",
"species": "Human"
},
{
"accession": "ORPHA79253",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79253",
"species": "Human"
}
]
},
{
"diseaseId": 658,
"name": "Myeloid neoplasm associated with PDGFRA rearrangement",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA168947",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168947",
"species": "Human"
}
]
},
{
"diseaseId": 120,
"name": "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA79644",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79644",
"species": "Human"
}
]
},
{
"diseaseId": 1289,
"name": "CHAPLE disorder; CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)",
"description": "This is an ultra-rare and life-threatening disorder that is caused by hyperactivation of the complement pathway due to a loss of functional CD55 protein.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "226300",
"database": "OMIM",
"url": "https://www.omim.org/entry/226300",
"species": "Human"
},
{
"accession": "ORPHA566175",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=566175",
"species": "Human"
}
]
},
{
"diseaseId": 802,
"name": "Psychomotor delay",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 578,
"name": "Lymphoma, non-hodgkin, familial",
"description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. Symptoms include enlarged lymph nodes, fever, night sweats, weight loss, and lethargy.",
"synonyms": [
{
"name": "Non-Hodgkin lymphoma"
}
],
"databaseLinks": [
{
"accession": "DOID:0060060",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060060",
"species": "Human"
},
{
"accession": "605027",
"database": "OMIM",
"url": "https://www.omim.org/entry/605027",
"species": "Human"
}
]
},
{
"diseaseId": 815,
"name": "Renal-hepatic-pancreatic dysplasia 2; RHPD2",
"description": "",
"synonyms": [
{
"name": "Renal-hepatic-pancreatic dysplasia"
}
],
"databaseLinks": [
{
"accession": "615415",
"database": "OMIM",
"url": "https://www.omim.org/entry/615415",
"species": "Human"
},
{
"accession": "ORPHA294415",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=294415",
"species": "Human"
}
]
},
{
"diseaseId": 695,
"name": "Non syndromic autosomal dominant long QT-syndrome",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 440,
"name": "Hirschsprung disease, susceptibility to, 2; HSCR2",
"description": "",
"synonyms": [
{
"name": "Hirschsprung disease"
}
],
"databaseLinks": [
{
"accession": "600155",
"database": "OMIM",
"url": "https://www.omim.org/entry/600155",
"species": "Human"
},
{
"accession": "ORPHA388",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=388",
"species": "Human"
}
]
},
{
"diseaseId": 1004,
"name": "Cortical dysplasia, complex, with other brain malformations 6; CDCBM6",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "615771",
"database": "OMIM",
"url": "https://www.omim.org/entry/615771",
"species": "Human"
}
]
},
{
"diseaseId": 794,
"name": "Pseudocorpus luteum insufficiency",
"description": "",
"synonyms": [
{
"name": "Progesterone resistance"
}
],
"databaseLinks": [
{
"accession": "264080",
"database": "OMIM",
"url": "https://www.omim.org/entry/264080",
"species": "Human"
}
]
},
{
"diseaseId": 57,
"name": "Alzheimer disease 3",
"description": "",
"synonyms": [
{
"name": "Alzheimer's disease"
},
{
"name": "Early-onset autosomal dominant Alzheimer disease"
}
],
"databaseLinks": [
{
"accession": "DOID:10652",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10652",
"species": "Human"
},
{
"accession": "607822",
"database": "OMIM",
"url": "https://www.omim.org/entry/607822",
"species": "Human"
},
{
"accession": "ORPHA1020",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1020",
"species": "Human"
}
]
},
{
"diseaseId": 19,
"name": "Absence epilepsy",
"description": "",
"synonyms": [
{
"name": "early onset absence epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:0050708",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050708",
"species": "Human"
}
]
},
{
"diseaseId": 160,
"name": "Breast cancer",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1612",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1612",
"species": "Human"
},
{
"accession": "114480",
"database": "OMIM",
"url": "https://www.omim.org/entry/114480",
"species": "Human"
}
]
},
{
"diseaseId": 644,
"name": "Multiple endocrine neoplasia IIA",
"description": "",
"synonyms": [
{
"name": "Multiple endocrine neoplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:3125",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3125",
"species": "Human"
},
{
"accession": "171400",
"database": "OMIM",
"url": "https://www.omim.org/entry/171400",
"species": "Human"
},
{
"accession": "ORPHA247698",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=247698",
"species": "Human"
}
]
},
{
"diseaseId": 824,
"name": "Retinitis pigmentosa 38; RP38",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
},
{
"accession": "613862",
"database": "OMIM",
"url": "https://www.omim.org/entry/613862",
"species": "Human"
},
{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
}
]
},
{
"diseaseId": 508,
"name": "Intrahepatic cholestasis of pregnancy",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA69665",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=69665",
"species": "Human"
}
]
},
{
"diseaseId": 1262,
"name": "Still's disease, adult onset",
"description": "Adult onset Still's disease (AoSD) is a rare systemic inflammatory condition of unknown aetiology. It is characterised by episodes of high, spiking fevers, arthritic jint inflammation/pain and a salmon coloured rash. AoSD is the adult form of juvenile idiopathic arthritis (a.k.a. juvenile Still's disease). There is some evidence to suggest that AoSD is an autoinflammatory syndrome, that may or may not be potentiated by an abnormal or exaggerated immune response to an infection or toxin.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14256",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14256",
"species": "Human"
}
]
},
{
"diseaseId": 357,
"name": "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA293888",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=293888",
"species": "Human"
}
]
},
{
"diseaseId": 1194,
"name": "Mastocytosis",
"description": "A disease caused by mast cell hyperplasia.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:350",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_350",
"species": "Human"
}
]
},
{
"diseaseId": 1143,
"name": "Immunodeficiency 18; IMD18",
"description": "",
"synonyms": [
{
"name": "CD3epsilon deficiency"
},
{
"name": "Immunodeficiency 18, SCID variant"
},
{
"name": "Immunodeficiency 18, Severe combined immunodeficiency variant"
},
{
"name": "Severe combined immunodeficiency"
},
{
"name": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
}
],
"databaseLinks": [
{
"accession": "DOID:0060017",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060017",
"species": "Human"
},
{
"accession": "615615",
"database": "OMIM",
"url": "https://www.omim.org/entry/615615",
"species": "Human"
},
{
"accession": "ORPHA169160",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169160",
"species": "Human"
},
{
"accession": "ORPHA183660",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=183660",
"species": "Human"
}
]
},
{
"diseaseId": 769,
"name": "Post-traumatic stress disorder",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2055",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2055",
"species": "Human"
}
]
},
{
"diseaseId": 266,
"name": "Pituitary adenoma, growth hormone-secreting, 1; PAGH1",
"description": "",
"synonyms": [
{
"name": "Growth hormone secreting pituitary adenoma"
}
],
"databaseLinks": [
{
"accession": "DOID:6255",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6255",
"species": "Human"
},
{
"accession": "102200",
"database": "OMIM",
"url": "https://www.omim.org/entry/102200",
"species": "Human"
}
]
},
{
"diseaseId": 1287,
"name": "Spinocerebellar ataxia 48: SCA48, autosomal dominant",
"description": "An autosomal dominant neurodegenerative disorder that is characterised by the onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Caused by heterozygous mutations in the STUB1 gene concurrently with an expanded repeat allele of the TBP gene.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "618093",
"database": "OMIM",
"url": "https://www.omim.org/entry/618093",
"species": "Human"
}
]
},
{
"diseaseId": 315,
"name": "Epilepsy, nocturnal frontal lobe 4, ENFL4",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant nocturnal frontal lobe epilepsy"
}
],
"databaseLinks": [
{
"accession": "610353",
"database": "OMIM",
"url": "https://www.omim.org/entry/610353",
"species": "Human"
},
{
"accession": "ORPHA98784",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98784",
"species": "Human"
}
]
},
{
"diseaseId": 1162,
"name": "Epilepsy, progressive myoclonic 7; EPM7",
"description": "",
"synonyms": [
{
"name": "Progressive myoclonus epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:891",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_891",
"species": "Human"
},
{
"accession": "616187",
"database": "OMIM",
"url": "https://www.omim.org/entry/616187",
"species": "Human"
}
]
},
{
"diseaseId": 307,
"name": "Epilepsy, childhood absence, susceptibility to, 6; ECA6",
"description": "",
"synonyms": [
{
"name": "Childhood absence epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:1825",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1825",
"species": "Human"
},
{
"accession": "611942",
"database": "OMIM",
"url": "https://www.omim.org/entry/611942",
"species": "Human"
},
{
"accession": "ORPHA64280",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=64280",
"species": "Human"
}
]
},
{
"diseaseId": 841,
"name": "Schizophrenia 16; SCZD16",
"description": "",
"synonyms": [
{
"name": "Schizophrenia"
}
],
"databaseLinks": [
{
"accession": "DOID:5419",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5419",
"species": "Human"
},
{
"accession": "181500",
"database": "OMIM",
"url": "https://www.omim.org/entry/181500",
"species": "Human"
},
{
"accession": "613959",
"database": "OMIM",
"url": "https://www.omim.org/entry/613959",
"species": "Human"
},
{
"accession": "ORPHA3140",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3140",
"species": "Human"
}
]
},
{
"diseaseId": 1030,
"name": "Beckwith-Wiedemann syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:5572",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5572",
"species": "Human"
},
{
"accession": "130650",
"database": "OMIM",
"url": "https://www.omim.org/entry/130650",
"species": "Human"
},
{
"accession": "ORPHA116",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=116",
"species": "Human"
}
]
},
{
"diseaseId": 91,
"name": "Ataxia-telangiectasia variant",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA370109",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=370109",
"species": "Human"
}
]
},
{
"diseaseId": 1239,
"name": "Polymyalgia rheumatica",
"description": "An inflammatory condition that causes severe pain and stiffness in the muscles around the shoulders, neck and hips.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:853",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_853",
"species": "Human"
}
]
},
{
"diseaseId": 803,
"name": "Pulmonary hypertension, primary 4; PPH4",
"description": "",
"synonyms": [
{
"name": "Heritable pulmonary arterial hypertension"
},
{
"name": "Idiopathic pulmonary arterial hypertension"
},
{
"name": "Primary pulmonary hypertension"
}
],
"databaseLinks": [
{
"accession": "DOID:14557",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14557",
"species": "Human"
},
{
"accession": "615344",
"database": "OMIM",
"url": "https://www.omim.org/entry/615344",
"species": "Human"
},
{
"accession": "ORPHA275777",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=275777",
"species": "Human"
},
{
"accession": "ORPHA275766",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=275766",
"species": "Human"
}
]
},
{
"diseaseId": 305,
"name": "Epilepsy, childhood absence, susceptibility to, 2; ECA2",
"description": "",
"synonyms": [
{
"name": "Childhood absence epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:1825",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1825",
"species": "Human"
},
{
"accession": "607681",
"database": "OMIM",
"url": "https://www.omim.org/entry/607681",
"species": "Human"
},
{
"accession": "ORPHA64280",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=64280",
"species": "Human"
}
]
},
{
"diseaseId": 54,
"name": "Alpha-methylacetoacetic aciduria",
"description": "",
"synonyms": [
{
"name": "Beta-ketothiolase deficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:14723",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14723",
"species": "Human"
},
{
"accession": "203750",
"database": "OMIM",
"url": "https://www.omim.org/entry/203750",
"species": "Human"
},
{
"accession": "ORPHA134",
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}
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"diseaseId": 181,
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"accession": "ORPHA1340",
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}
]
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"diseaseId": 743,
"name": "Periodontitis, aggressive, 1",
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"name": "Aggressive periodontitis"
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"accession": "DOID:1474",
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{
"accession": "170650",
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"name": "X-linked intellectual disability due to GRIA3 anomalies"
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"accession": "ORPHA364028",
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"accession": "ORPHA521",
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"name": "Retinitis pigmentosa"
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"accession": "ORPHA791",
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{
"diseaseId": 822,
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{
"name": "Retinitis pigmentosa"
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"accession": "DOID:10584",
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{
"accession": "600852",
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"accession": "ORPHA791",
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"name": "Familial cold urticaria"
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"accession": "ORPHA47045",
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{
"accession": "300476",
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"accession": "ORPHA1872",
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"name": "Hypertrichotic osteochondrodysplasia, Cantu type"
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"name": "Microcephaly - lymphedema - chorioretinopathy"
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"accession": "152950",
"database": "OMIM",
"url": "https://www.omim.org/entry/152950",
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{
"accession": "ORPHA2526",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2526",
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"name": "Maturity-onset diabetes of the young; MODY",
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"accession": "606391",
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"accession": "ORPHA552",
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"accession": "ORPHA753",
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"accession": "ORPHA71211",
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"accession": "ORPHA648",
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"accession": "ORPHA91387",
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}
]
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"name": "Bilateral striopallidodentate calcinosis"
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"accession": "ORPHA1980",
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]
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"name": "atopic rhinitis"
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"name": "hay fever"
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"name": "Non-seasonal allergic rhinitis"
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{
"name": "Perenial allergic rhinitis"
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"name": "pollenosis"
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"name": "seasonal allergic rhinitis"
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{
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"name": "Familial male-limited precocious puberty"
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"species": "Human"
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{
"accession": "ORPHA3000",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3000",
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]
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"name": "Thanatophoric dysplasia"
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{
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{
"accession": "ORPHA93274",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93274",
"species": "Human"
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]
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{
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"url": "http://purl.obolibrary.org/obo/DOID_13564",
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"name": "Congenital melanocytic nevus"
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{
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{
"accession": "ORPHA626",
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},
{
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"name": "Hereditary motor and sensory neuropathy, type IIC, HMSN2C",
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"name": "Autosomal dominant Charcot-Marie-Tooth disease type 2C"
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"accession": "DOID:0050539",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050539",
"species": "Human"
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{
"accession": "606071",
"database": "OMIM",
"url": "https://www.omim.org/entry/606071",
"species": "Human"
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{
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99937",
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}
]
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{
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]
},
{
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{
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"database": "OMIM",
"url": "https://www.omim.org/entry/145980",
"species": "Human"
},
{
"accession": "ORPHA93372",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93372",
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}
]
},
{
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"name": "Congenital hyperinsulinemic hypoglycemia",
"description": "Multiorgan disease, birth complications, hyperaldosteronism, hypertension",
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},
{
"diseaseId": 747,
"name": "Persistent hyperplastic primary vitreous",
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]
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{
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"name": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"
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],
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{
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}
]
},
{
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"description": "",
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{
"name": "Duncan disease"
},
{
"name": "Duncan's syndrome"
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{
"name": "Lymphoproliferative disease"
},
{
"name": "X-linked lymphoproliferative disease"
}
],
"databaseLinks": [
{
"accession": "DOID:619",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_619",
"species": "Human"
},
{
"accession": "300635",
"database": "OMIM",
"url": "https://www.omim.org/entry/300635",
"species": "Human"
},
{
"accession": "ORPHA2442",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2442",
"species": "Human"
}
]
},
{
"diseaseId": 777,
"name": "Prekallikrein deficiency",
"description": "",
"synonyms": [
{
"name": "Fletcher factor deficiency"
}
],
"databaseLinks": [
{
"accession": "612423",
"database": "OMIM",
"url": "https://www.omim.org/entry/612423",
"species": "Human"
},
{
"accession": "ORPHA749",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=749",
"species": "Human"
}
]
},
{
"diseaseId": 164,
"name": "Bronchial asthma",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1098,
"name": "Succinic semialdehyde dehydrogenase deficiency; SSADHD",
"description": "",
"synonyms": [
{
"name": "4-hydroxybutyric aciduria"
}
],
"databaseLinks": [
{
"accession": "DOID:0060175",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060175",
"species": "Human"
},
{
"accession": "271980",
"database": "OMIM",
"url": "https://www.omim.org/entry/271980",
"species": "Human"
},
{
"accession": "ORPHA22",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=22",
"species": "Human"
}
]
},
{
"diseaseId": 922,
"name": "Thyroid dyshormonogenesis 2A; TDH2A",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "274500",
"database": "OMIM",
"url": "https://www.omim.org/entry/274500",
"species": "Human"
},
{
"accession": "ORPHA95716",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=95716",
"species": "Human"
}
]
},
{
"diseaseId": 453,
"name": "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency",
"description": "",
"synonyms": [
{
"name": "Hyperinsulinemic hypoglycemia, familial, 1; HHF1"
}
],
"databaseLinks": [
{
"accession": "256450",
"database": "OMIM",
"url": "https://www.omim.org/entry/256450",
"species": "Human"
},
{
"accession": "ORPHA276598",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=276598",
"species": "Human"
}
]
},
{
"diseaseId": 787,
"name": "Progressive familial heart block, type IB, PFHB1B",
"description": "",
"synonyms": [
{
"name": "Familial progressive cardiac conduction defect"
}
],
"databaseLinks": [
{
"accession": "604559",
"database": "OMIM",
"url": "https://www.omim.org/entry/604559",
"species": "Human"
},
{
"accession": "ORPHA871",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=871",
"species": "Human"
}
]
},
{
"diseaseId": 186,
"name": "Cardiomyopathy, dilated, 1V; CMD1V",
"description": "",
"synonyms": [
{
"name": "Dilated cardiomyopathy"
},
{
"name": "Familial isolated dilated cardiomyopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:12930",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12930",
"species": "Human"
},
{
"accession": "613697",
"database": "OMIM",
"url": "https://www.omim.org/entry/613697",
"species": "Human"
},
{
"accession": "ORPHA154",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=154",
"species": "Human"
}
]
},
{
"diseaseId": 501,
"name": "Insomnia",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 750,
"name": "Peutz-Jeghers syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:3852",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3852",
"species": "Human"
},
{
"accession": "175200",
"database": "OMIM",
"url": "https://www.omim.org/entry/175200",
"species": "Human"
},
{
"accession": "ORPHA2869",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2869",
"species": "Human"
}
]
},
{
"diseaseId": 182,
"name": "Cardiofaciocutaneous syndrome 4; CFC4",
"description": "",
"synonyms": [
{
"name": "Cardiofaciocutaneous syndrome"
}
],
"databaseLinks": [
{
"accession": "615280",
"database": "OMIM",
"url": "https://www.omim.org/entry/615280",
"species": "Human"
},
{
"accession": "ORPHA1340",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1340",
"species": "Human"
}
]
},
{
"diseaseId": 18,
"name": "Abdominal obesity-metabolic syndrome 1; AOMS1",
"description": "",
"synonyms": [
{
"name": "Metabolic syndrome X"
}
],
"databaseLinks": [
{
"accession": "DOID:14221",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14221",
"species": "Human"
},
{
"accession": "605552",
"database": "OMIM",
"url": "https://www.omim.org/entry/605552",
"species": "Human"
}
]
},
{
"diseaseId": 977,
"name": "Autoimmune lymphoproliferative syndrome; ALPS",
"description": "ALPS covers a set of heterogenic heritable conditions characterised by a failure of apoptosis, that results in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. Genes carrying ALPS-causing mutations include Fas receptor (type IA), fas ligand (type IB), caspase 10 (type IIA), caspase 8 (type IIB), PRKCD (ALPS3), NRAS (ALPS4) and CTLA4 (ALPS5).",
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],
"databaseLinks": [
{
"accession": "DOID:6688",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6688",
"species": "Human"
},
{
"accession": "601859",
"database": "OMIM",
"url": "https://www.omim.org/entry/601859",
"species": "Human"
},
{
"accession": "ORPHA3261",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3261",
"species": "Human"
}
]
},
{
"diseaseId": 528,
"name": "Keratosis, seborrheic",
"description": "",
"synonyms": [
{
"name": "Seborrheic keratosis"
}
],
"databaseLinks": [
{
"accession": "DOID:6498",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6498",
"species": "Human"
},
{
"accession": "182000",
"database": "OMIM",
"url": "https://www.omim.org/entry/182000",
"species": "Human"
}
]
},
{
"diseaseId": 27,
"name": "Acromegaly",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2449",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2449",
"species": "Human"
},
{
"accession": "102200",
"database": "OMIM",
"url": "https://www.omim.org/entry/102200",
"species": "Human"
},
{
"accession": "ORPHA963",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=963",
"species": "Human"
}
]
},
{
"diseaseId": 811,
"name": "Renal cell carcinoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4450",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4450",
"species": "Human"
}
]
},
{
"diseaseId": 563,
"name": "Long QT syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2843",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2843",
"species": "Human"
}
]
},
{
"diseaseId": 143,
"name": "Bent bone dysplasia syndrome",
"description": "",
"synonyms": [
{
"name": "FGFR2-related bent bone dysplasia"
}
],
"databaseLinks": [
{
"accession": "614592",
"database": "OMIM",
"url": "https://www.omim.org/entry/614592",
"species": "Human"
},
{
"accession": "ORPHA313855",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=313855",
"species": "Human"
}
]
},
{
"diseaseId": 58,
"name": "Alzheimer disease 4",
"description": "",
"synonyms": [
{
"name": "Alzheimer's disease"
},
{
"name": "Early-onset autosomal dominant Alzheimer disease"
}
],
"databaseLinks": [
{
"accession": "DOID:10652",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10652",
"species": "Human"
},
{
"accession": "606889",
"database": "OMIM",
"url": "https://www.omim.org/entry/606889",
"species": "Human"
},
{
"accession": "ORPHA1020",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1020",
"species": "Human"
}
]
},
{
"diseaseId": 228,
"name": "Coenzyme Q10 deficiency, primary, 4",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive ataxia due to ubiquinone deficiency"
},
{
"name": "Coenzyme Q10 deficiency disease"
}
],
"databaseLinks": [
{
"accession": "DOID:0050730",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050730",
"species": "Human"
},
{
"accession": "612016",
"database": "OMIM",
"url": "https://www.omim.org/entry/612016",
"species": "Human"
},
{
"accession": "ORPHA139485",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=139485",
"species": "Human"
}
]
},
{
"diseaseId": 667,
"name": "Myotonic dystrophy 1",
"description": "",
"synonyms": [
{
"name": "Steinert myotonic dystrophy"
}
],
"databaseLinks": [
{
"accession": "DOID:11722",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11722",
"species": "Human"
},
{
"accession": "160900",
"database": "OMIM",
"url": "https://www.omim.org/entry/160900",
"species": "Human"
},
{
"accession": "ORPHA273",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=273",
"species": "Human"
}
]
},
{
"diseaseId": 814,
"name": "Renal tubular dysgenesis",
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],
"databaseLinks": [
{
"accession": "267430",
"database": "OMIM",
"url": "https://www.omim.org/entry/267430",
"species": "Human"
},
{
"accession": "ORPHA97369",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97369",
"species": "Human"
}
]
},
{
"diseaseId": 668,
"name": "Myxoma, intracardiac",
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],
"databaseLinks": [
{
"accession": "255960",
"database": "OMIM",
"url": "https://www.omim.org/entry/255960",
"species": "Human"
},
{
"accession": "ORPHA615",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=615",
"species": "Human"
}
]
},
{
"diseaseId": 850,
"name": "Severe combined immunodeficiency due to adenosine deaminase deficiency",
"description": "ADA-SCID is an ultra-rare, inherited genetic disorder, caused adenosine deaminase (ADA) deficiency. Affected individuals experience recurrent and potentially life-threatening infections as their immune systems are severely compromised by the build up of toxic metabolites in the absence of ADA activity.",
"synonyms": [
{
"name": "ADA-SCID"
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{
"name": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase"
}
],
"databaseLinks": [
{
"accession": "DOID:5810",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5810",
"species": "Human"
},
{
"accession": "102700",
"database": "OMIM",
"url": "https://www.omim.org/entry/102700",
"species": "Human"
},
{
"accession": "ORPHA277",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=277",
"species": "Human"
}
]
},
{
"diseaseId": 294,
"name": "Eiken syndrome",
"synonyms": [
],
"databaseLinks": [
{
"accession": "600002",
"database": "OMIM",
"url": "https://www.omim.org/entry/600002",
"species": "Human"
},
{
"accession": "ORPHA79106",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79106",
"species": "Human"
}
]
},
{
"diseaseId": 481,
"name": "Ichthyosis, congenital, autosomal recessive 4B; ARCI4B",
"description": "",
"synonyms": [
{
"name": "Harlequin ichthyosis"
}
],
"databaseLinks": [
{
"accession": "242500",
"database": "OMIM",
"url": "https://www.omim.org/entry/242500",
"species": "Human"
},
{
"accession": "ORPHA457",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=457",
"species": "Human"
}
]
},
{
"diseaseId": 926,
"name": "Thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1",
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],
"databaseLinks": [
{
"accession": "188580",
"database": "OMIM",
"url": "https://www.omim.org/entry/188580",
"species": "Human"
},
{
"accession": "ORPHA79102",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79102",
"species": "Human"
}
]
},
{
"diseaseId": 645,
"name": "Multiple endocrine neoplasia IIB",
"description": "",
"synonyms": [
{
"name": "Multiple endocrine neoplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:3125",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3125",
"species": "Human"
},
{
"accession": "162300",
"database": "OMIM",
"url": "https://www.omim.org/entry/162300",
"species": "Human"
},
{
"accession": "ORPHA247709",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=247709",
"species": "Human"
}
]
},
{
"diseaseId": 1009,
"name": "Immunodeficiency, common variable, 3; CVID3",
"description": "",
"synonyms": [
{
"name": "Common variable immunodeficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:12177",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12177",
"species": "Human"
},
{
"accession": "613493",
"database": "OMIM",
"url": "https://www.omim.org/entry/613493",
"species": "Human"
},
{
"accession": "ORPHA1572",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1572",
"species": "Human"
}
]
},
{
"diseaseId": 607,
"name": "Melanoma, cutaneous malignant, susceptibility to, 8; CMM8",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "601800",
"database": "OMIM",
"url": "https://www.omim.org/entry/601800",
"species": "Human"
}
]
},
{
"diseaseId": 438,
"name": "Hirschsprung disease, cardiac defects, and autonomic dysfunction",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "613870",
"database": "OMIM",
"url": "https://www.omim.org/entry/613870",
"species": "Human"
}
]
},
{
"diseaseId": 382,
"name": "Galactosialidosis",
"synonyms": [
],
"databaseLinks": [
{
"accession": "256540",
"database": "OMIM",
"url": "https://www.omim.org/entry/256540",
"species": "Human"
},
{
"accession": "ORPHA351",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=351",
"species": "Human"
}
]
},
{
"diseaseId": 258,
"name": "Cortisone reductase deficiency 2",
"description": "",
"synonyms": [
{
"name": "Hyperandrogenism due to cortisone reductase deficiency"
}
],
"databaseLinks": [
{
"accession": "614662",
"database": "OMIM",
"url": "https://www.omim.org/entry/614662",
"species": "Human"
},
{
"accession": "ORPHA168588",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168588",
"species": "Human"
}
]
},
{
"diseaseId": 853,
"name": "Severe hemophilia B",
"description": "",
"synonyms": [
{
"name": "Hemophilia B; HEMB"
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],
"databaseLinks": [
{
"accession": "DOID:12259",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12259",
"species": "Human"
},
{
"accession": "306900",
"database": "OMIM",
"url": "https://www.omim.org/entry/306900",
"species": "Human"
},
{
"accession": "ORPHA169793",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169793",
"species": "Human"
}
]
},
{
"diseaseId": 378,
"name": "Focal segmental glomerulosclerosis 2; FSGS2",
"description": "",
"synonyms": [
{
"name": "Focal segmental glomerulosclerosis"
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],
"databaseLinks": [
{
"accession": "DOID:1312",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1312",
"species": "Human"
},
{
"accession": "603965",
"database": "OMIM",
"url": "https://www.omim.org/entry/603965",
"species": "Human"
},
{
"accession": "ORPHA93213",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93213",
"species": "Human"
}
]
},
{
"diseaseId": 1050,
"name": "Autoinflammation with infantile enterocolitis; AIFEC",
"description": "",
"synonyms": [
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"databaseLinks": [
{
"accession": "616050",
"database": "OMIM",
"url": "https://www.omim.org/entry/616050",
"species": "Human"
}
]
},
{
"diseaseId": 84,
"name": "Aspirin exacerbated respiratory diseases",
"synonyms": [
],
"databaseLinks": [
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},
{
"diseaseId": 799,
"name": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency",
"description": "",
"synonyms": [
{
"name": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"
}
],
"databaseLinks": [
{
"accession": "610842",
"database": "OMIM",
"url": "https://www.omim.org/entry/610842",
"species": "Human"
},
{
"accession": "ORPHA91135",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=91135",
"species": "Human"
}
]
},
{
"diseaseId": 1259,
"name": "Acrodermatitis enteropathica",
"description": "AE is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with bullous skin lesions, and widespread malformation of immune system tissues (absence of the thymus and germinal centers, and plasmocytosis of lymph nodes and spleen).",
"synonyms": [
],
"databaseLinks": [
{
"accession": "201100",
"database": "OMIM",
"url": "https://www.omim.org/entry/201100",
"species": "Human"
}
]
},
{
"diseaseId": 1044,
"name": "Spinal muscular atrophy, type III; SMA3",
"description": "",
"synonyms": [
{
"name": "Kugelberg-Welander disease"
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{
"name": "Proximal spinal muscular atrophy type 3"
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{
"name": "Spinal muscular atrophy"
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],
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"accession": "614022",
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"accession": "603909",
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"accession": "ORPHA3261",
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{
"accession": "612529",
"database": "OMIM",
"url": "https://www.omim.org/entry/612529",
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{
"accession": "ORPHA100033",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100033",
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"diseaseId": 589,
"name": "Malignant mesothelioma",
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"accession": "156240",
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"diseaseId": 127,
"name": "Bartter syndrome, antenatal, type 2",
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"name": "Bartter disease"
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"accession": "241200",
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"accession": "ORPHA93604",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93604",
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"diseaseId": 1285,
"name": "Epilepsy and Intellectual Disability",
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"diseaseId": 1167,
"name": "Epilepsy and Autism",
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"diseaseId": 555,
"name": "Lipoma",
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"diseaseId": 682,
"name": "Neuropathy, hereditary sensory, type IE; HSN1E",
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"accession": "614116",
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"diseaseId": 567,
"name": "Lung cancer",
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"url": "http://purl.obolibrary.org/obo/DOID_1324",
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{
"accession": "211980",
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"url": "https://www.omim.org/entry/211980",
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}
]
},
{
"diseaseId": 329,
"name": "Episodic ataxia, type 2; EA2",
"description": "",
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"name": "Episodic ataxia"
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"name": "Familial paroxysmal ataxia"
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],
"databaseLinks": [
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"url": "http://purl.obolibrary.org/obo/DOID_963",
"species": "Human"
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"accession": "108500",
"database": "OMIM",
"url": "https://www.omim.org/entry/108500",
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{
"accession": "ORPHA97",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97",
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"diseaseId": 44,
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"accession": "DOID:0050628",
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"accession": "615224",
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"species": "Human"
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{
"accession": "ORPHA164736",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=164736",
"species": "Human"
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"diseaseId": 1144,
"name": "Agammaglobulinemia 6, Autosomal recessive; AGM6",
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"name": "Agammaglobulinemia"
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"name": "Autosomal agammaglobulinemia"
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],
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"url": "http://purl.obolibrary.org/obo/DOID_2583",
"species": "Human"
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{
"accession": "612692",
"database": "OMIM",
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"species": "Human"
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"accession": "ORPHA33110",
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"diseaseId": 816,
"name": "Generalized resistance to thyroid hormone",
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"name": "Thyroid hormone resistance, generalized, autosomal recessive; GRTH"
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{
"name": "Thyroid hormone resistance syndrome"
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],
"databaseLinks": [
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"accession": "DOID:11633",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11633",
"species": "Human"
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{
"accession": "188570",
"database": "OMIM",
"url": "https://www.omim.org/entry/188570",
"species": "Human"
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{
"accession": "274300",
"database": "OMIM",
"url": "https://www.omim.org/entry/274300",
"species": "Human"
},
{
"accession": "ORPHA3221",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3221",
"species": "Human"
}
]
},
{
"diseaseId": 676,
"name": "Neuroblastoma",
"description": "",
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"databaseLinks": [
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"accession": "DOID:769",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_769",
"species": "Human"
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{
"accession": "ORPHA635",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=635",
"species": "Human"
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]
},
{
"diseaseId": 153,
"name": "Bone resorption",
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{
"diseaseId": 1022,
"name": "Partial hydatidiform mole",
"description": "",
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"name": "Hydatidiform mole, recurrent, 1; HYDM1"
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],
"databaseLinks": [
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"accession": "231090",
"database": "OMIM",
"url": "https://www.omim.org/entry/231090",
"species": "Human"
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{
"accession": "ORPHA254693",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=254693",
"species": "Human"
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]
},
{
"diseaseId": 778,
"name": "Premature chromatid separation trait",
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"accession": "176430",
"database": "OMIM",
"url": "https://www.omim.org/entry/176430",
"species": "Human"
}
]
},
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"diseaseId": 507,
"name": "Intervertebral disc disease; IDD",
"description": "",
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"databaseLinks": [
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"accession": "DOID:9321",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9321",
"species": "Human"
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{
"accession": "603932",
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"url": "https://www.omim.org/entry/603932",
"species": "Human"
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]
},
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"diseaseId": 944,
"name": "Venous malformations, multiple cutaneous and mucosal",
"description": "",
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"name": "Mucocutaneous venous malformations"
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],
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"accession": "600195",
"database": "OMIM",
"url": "https://www.omim.org/entry/600195",
"species": "Human"
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{
"accession": "ORPHA2451",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2451",
"species": "Human"
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]
},
{
"diseaseId": 214,
"name": "Chromosome 15q11-q13 duplication syndrome",
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"databaseLinks": [
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"accession": "608636",
"database": "OMIM",
"url": "https://www.omim.org/entry/608636",
"species": "Human"
},
{
"accession": "ORPHA106",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=106",
"species": "Human"
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]
},
{
"diseaseId": 847,
"name": "Selective pituitary resistance to thyroid hormone",
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"databaseLinks": [
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"accession": "145650",
"database": "OMIM",
"url": "https://www.omim.org/entry/145650",
"species": "Human"
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{
"accession": "ORPHA165994",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=165994",
"species": "Human"
}
]
},
{
"diseaseId": 419,
"name": "Severe hemophilia A",
"description": "",
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"name": "Hemophilia A; HEMA"
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],
"databaseLinks": [
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"accession": "306700",
"database": "OMIM",
"url": "https://www.omim.org/entry/306700",
"species": "Human"
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{
"accession": "ORPHA169802",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169802",
"species": "Human"
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]
},
{
"diseaseId": 664,
"name": "Myofibromatosis, infantile, 1; IMF1",
"description": "",
"synonyms": [
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"name": "Infantile myofibromatosis"
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],
"databaseLinks": [
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"accession": "228550",
"database": "OMIM",
"url": "https://www.omim.org/entry/228550",
"species": "Human"
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{
"accession": "ORPHA2591",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2591",
"species": "Human"
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]
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{
"diseaseId": 551,
"name": "Leydig cell hypoplasia, type 1",
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"accession": "238320",
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"url": "https://www.omim.org/entry/238320",
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{
"accession": "ORPHA755",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=755",
"species": "Human"
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]
},
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"diseaseId": 1170,
"name": "Hereditary hemorrhagic telangiectasia type 1 (HHT1)",
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{
"name": "Osler hemorrhagic telangiectasia syndrome"
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{
"name": "Osler-Rendu-Weber disease"
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],
"databaseLinks": [
{
"accession": "187300",
"database": "OMIM",
"url": "https://www.omim.org/entry/187300",
"species": "Human"
},
{
"accession": "ORPHA774",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=774",
"species": "Human"
}
]
},
{
"diseaseId": 532,
"name": "Lacrimoauriculodentodigital syndrome",
"description": "",
"synonyms": [
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"name": "LADD syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:0050331",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050331",
"species": "Human"
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{
"accession": "149730",
"database": "OMIM",
"url": "https://www.omim.org/entry/149730",
"species": "Human"
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{
"accession": "ORPHA2363",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2363",
"species": "Human"
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]
},
{
"diseaseId": 945,
"name": "Ventricular fibrillation during myocardial infarction, susceptibility to",
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"name": "Idiopathic ventricular fibrillation, not Brugada type"
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],
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"accession": "603829",
"database": "OMIM",
"url": "https://www.omim.org/entry/603829",
"species": "Human"
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{
"accession": "ORPHA228140",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=228140",
"species": "Human"
}
]
},
{
"diseaseId": 948,
"name": "Warfarin resistance",
"description": "",
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"name": "Coumarin resistance"
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],
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"accession": "122700",
"database": "OMIM",
"url": "https://www.omim.org/entry/122700",
"species": "Human"
}
]
},
{
"diseaseId": 95,
"name": "IgE responsiveness, atopic; IGER",
"description": "",
"synonyms": [
],
"databaseLinks": [
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"accession": "147050",
"database": "OMIM",
"url": "https://www.omim.org/entry/147050",
"species": "Human"
}
]
},
{
"diseaseId": 259,
"name": "Cowden syndrome 5; CWS5",
"description": "",
"synonyms": [
{
"name": "Cowden disease"
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{
"name": "Cowden syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:6457",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6457",
"species": "Human"
},
{
"accession": "615108",
"database": "OMIM",
"url": "https://www.omim.org/entry/615108",
"species": "Human"
},
{
"accession": "ORPHA201",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201",
"species": "Human"
}
]
},
{
"diseaseId": 519,
"name": "Isolated growth hormone deficiency, Type III",
"description": "",
"synonyms": [
{
"name": "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"
}
],
"databaseLinks": [
{
"accession": "307200",
"database": "OMIM",
"url": "https://www.omim.org/entry/307200",
"species": "Human"
},
{
"accession": "ORPHA632",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=632",
"species": "Human"
}
]
},
{
"diseaseId": 1203,
"name": "keratoconjunctivitis sicca",
"description": "A dry eye syndrome characterised by a deficiency of aqueous tear film over the ocular surface; symptoms include inflammation of the cornea and surrounding tissues from drying, which can lead to damage of the ocular surface. and visual disturbance.",
"synonyms": [
{
"name": "dry eye disease"
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{
"name": "KCS"
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{
"name": "keratitis sicca"
}
],
"databaseLinks": [
{
"accession": "DOID:12895",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12895",
"species": "Human"
}
]
},
{
"diseaseId": 965,
"name": "Severe achondroplasia - developmental delay - acanthosis nigricans",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "187600",
"database": "OMIM",
"url": "https://www.omim.org/entry/187600",
"species": "Human"
},
{
"accession": "ORPHA85165",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85165",
"species": "Human"
}
]
},
{
"diseaseId": 172,
"name": "Butyrylcholinesterase deficiency",
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],
"databaseLinks": [
{
"accession": "ORPHA132",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=132",
"species": "Human"
}
]
},
{
"diseaseId": 1250,
"name": "Agammaglobulinemia, autosomal recessive",
"description": "A rare form of agammaglobulinemia associated with primary immunodeficiency. Caused by homozygous mutation in the PIK3R1 gene.",
"synonyms": [
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"name": "agammaglobulinemia 7"
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{
"name": "agammaglobulinemia, non-Bruton type"
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{
"name": "AGM7"
}
],
"databaseLinks": [
{
"accession": "615214",
"database": "OMIM",
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"species": "Human"
},
{
"accession": "ORPHA33110",
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"species": "Human"
}
]
},
{
"diseaseId": 409,
"name": "Hashimoto-Pritzker syndrome",
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"accession": "ORPHA99872",
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]
},
{
"diseaseId": 840,
"name": "Schizophrenia 13; SCZD13",
"description": "",
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"name": "Schizophrenia"
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],
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"accession": "DOID:5419",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5419",
"species": "Human"
},
{
"accession": "181500",
"database": "OMIM",
"url": "https://www.omim.org/entry/181500",
"species": "Human"
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{
"accession": "613025",
"database": "OMIM",
"url": "https://www.omim.org/entry/613025",
"species": "Human"
},
{
"accession": "ORPHA3140",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3140",
"species": "Human"
}
]
},
{
"diseaseId": 30,
"name": "Childhood acute lymphoblastic leukemia",
"description": "",
"synonyms": [
{
"name": "acute lymphocytic leukemia"
}
],
"databaseLinks": [
{
"accession": "DOID:9952",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9952",
"species": "Human"
},
{
"accession": "613065",
"database": "OMIM",
"url": "https://www.omim.org/entry/613065",
"species": "Human"
}
]
},
{
"diseaseId": 521,
"name": "Jackson-Weiss syndrome",
"description": "",
"synonyms": [
{
"name": "Craniosynostosis - midfacial hypoplasia - foot abnormalities"
}
],
"databaseLinks": [
{
"accession": "123150",
"database": "OMIM",
"url": "https://www.omim.org/entry/123150",
"species": "Human"
},
{
"accession": "ORPHA1540",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1540",
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}
]
},
{
"diseaseId": 1038,
"name": "Autoimmune thyroid disorders",
"description": "",
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],
"databaseLinks": [
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},
{
"diseaseId": 324,
"name": "Epileptic encephalopathy, early infantile, 2; EIEE2",
"description": "",
"synonyms": [
{
"name": "Early infantile epileptic encephalopathy"
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{
"name": "Infantile epileptic encephalopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:2481",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2481",
"species": "Human"
},
{
"accession": "300672",
"database": "OMIM",
"url": "https://www.omim.org/entry/300672",
"species": "Human"
},
{
"accession": "ORPHA1934",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1934",
"species": "Human"
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]
},
{
"diseaseId": 981,
"name": "Schimmelpenning-Feuerstein-Mims syndrome; SFM",
"description": "",
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{
"name": "Linear nevus sebaceus syndrome"
}
],
"databaseLinks": [
{
"accession": "163200",
"database": "OMIM",
"url": "https://www.omim.org/entry/163200",
"species": "Human"
},
{
"accession": "ORPHA2612",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2612",
"species": "Human"
}
]
},
{
"diseaseId": 921,
"name": "Thyroid carcinoma, papillary",
"description": "",
"synonyms": [
{
"name": "Differentiated thyroid carcinoma"
},
{
"name": "Papillary thyroid carcinoma"
}
],
"databaseLinks": [
{
"accession": "DOID:3969",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3969",
"species": "Human"
},
{
"accession": "188550",
"database": "OMIM",
"url": "https://www.omim.org/entry/188550",
"species": "Human"
},
{
"accession": "ORPHA146",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=146",
"species": "Human"
}
]
},
{
"diseaseId": 1221,
"name": "Scleroderma",
"description": "A fibrosing autoimmune disease affecting collagen, characterised by abnormal growth of connective tissue in the skin and internal organs.",
"synonyms": [
{
"name": "systemic sclerosis"
}
],
"databaseLinks": [
{
"accession": "DOID:419",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_419",
"species": "Human"
}
]
},
{
"diseaseId": 1227,
"name": "Myositis",
"description": "A myopathy characterized by muscle inflammation.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:633",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_633",
"species": "Human"
},
{
"accession": "160750",
"database": "OMIM",
"url": "https://www.omim.org/entry/160750",
"species": "Human"
}
]
},
{
"diseaseId": 249,
"name": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi",
"description": "CLOVE syndrome is caused by gain-of-function mutation of the PI3KA gene.",
"synonyms": [
{
"name": "CLOVE syndrome"
}
],
"databaseLinks": [
{
"accession": "612918",
"database": "OMIM",
"url": "https://www.omim.org/entry/612918",
"species": "Human"
},
{
"accession": "ORPHA140944",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=140944",
"species": "Human"
}
]
},
{
"diseaseId": 255,
"name": "Coronary artery disease",
"description": "",
"synonyms": [
],
"databaseLinks": [
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"accession": "DOID:3393",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3393",
"species": "Human"
}
]
},
{
"diseaseId": 1126,
"name": "Parkinsonism-dystonia, infantile; PKDYS",
"description": "",
"synonyms": [
{
"name": "Infantile dystonia-parkinsonism"
}
],
"databaseLinks": [
{
"accession": "613135",
"database": "OMIM",
"url": "https://www.omim.org/entry/613135",
"species": "Human"
},
{
"accession": "ORPHA238455",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=238455",
"species": "Human"
}
]
},
{
"diseaseId": 1217,
"name": "Spermatogenic failure",
"description": "A common cause of male subfertility (see PubMed ID 10522977). Resulting from various etiologies.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 984,
"name": "Inflammatory skin and bowel disease, neonatal, 2; NISBD2",
"description": "",
"synonyms": [
{
"name": "Neonatal inflammatory skin and bowel disease"
}
],
"databaseLinks": [
{
"accession": "616069",
"database": "OMIM",
"url": "https://www.omim.org/entry/616069",
"species": "Human"
},
{
"accession": "ORPHA294023",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=294023",
"species": "Human"
}
]
},
{
"diseaseId": 296,
"name": "Endocrine tumors",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 209,
"name": "Chiari II malformation",
"synonyms": [
],
"databaseLinks": [
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},
{
"diseaseId": 74,
"name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050462",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050462",
"species": "Human"
},
{
"accession": "207410",
"database": "OMIM",
"url": "https://www.omim.org/entry/207410",
"species": "Human"
},
{
"accession": "ORPHA83",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83",
"species": "Human"
}
]
},
{
"diseaseId": 937,
"name": "Immunodeficiency 35; IMD35",
"description": "",
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{
"name": "Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency"
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{
"name": "Tyrosine kinase 2 deficiency"
}
],
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"accession": "611521",
"database": "OMIM",
"url": "https://www.omim.org/entry/611521",
"species": "Human"
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{
"accession": "ORPHA331226",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=331226",
"species": "Human"
}
]
},
{
"diseaseId": 1249,
"name": "Acatalasemia",
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"name": "acatalasia"
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{
"name": "catalase deficiency"
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{
"name": "Takahara disease"
}
],
"databaseLinks": [
{
"accession": "614097",
"database": "OMIM",
"url": "https://www.omim.org/entry/614097",
"species": "Human"
},
{
"accession": "ORPHA926",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=926",
"species": "Human"
}
]
},
{
"diseaseId": 868,
"name": "Smouldering systemic mastocytosis",
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"databaseLinks": [
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"accession": "ORPHA158775",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158775",
"species": "Human"
}
]
},
{
"diseaseId": 138,
"name": "Seizures, benign familial neonatal, 2; BFNS2",
"description": "",
"synonyms": [
{
"name": "Benign familial neonatal seizures"
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{
"name": "Benign neonatal seizures"
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],
"databaseLinks": [
{
"accession": "DOID:14264",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14264",
"species": "Human"
},
{
"accession": "121201",
"database": "OMIM",
"url": "https://www.omim.org/entry/121201",
"species": "Human"
},
{
"accession": "ORPHA1949",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1949",
"species": "Human"
}
]
},
{
"diseaseId": 34,
"name": "Acute myeloid leukemia",
"description": "",
"synonyms": [
{
"name": "Acute myelogenous leukemia"
}
],
"databaseLinks": [
{
"accession": "DOID:9119",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9119",
"species": "Human"
},
{
"accession": "601626",
"database": "OMIM",
"url": "https://www.omim.org/entry/601626",
"species": "Human"
},
{
"accession": "ORPHA519",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=519",
"species": "Human"
}
]
},
{
"diseaseId": 418,
"name": "Moderately severe hemophilia A",
"description": "",
"synonyms": [
{
"name": "Hemophilia A; HEMA"
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],
"databaseLinks": [
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"accession": "306700",
"database": "OMIM",
"url": "https://www.omim.org/entry/306700",
"species": "Human"
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{
"accession": "ORPHA169805",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169805",
"species": "Human"
}
]
},
{
"diseaseId": 947,
"name": "Waardenburg syndrome, type 4A; WS4A",
"description": "",
"synonyms": [
{
"name": "Waardenburg-Shah syndrome"
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{
"name": "Waardenburg's syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:9258",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9258",
"species": "Human"
},
{
"accession": "277580",
"database": "OMIM",
"url": "https://www.omim.org/entry/277580",
"species": "Human"
},
{
"accession": "ORPHA897",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=897",
"species": "Human"
}
]
},
{
"diseaseId": 972,
"name": "Retinitis pigmentosa 40; RP40",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
},
{
"accession": "613801",
"database": "OMIM",
"url": "https://www.omim.org/entry/613801",
"species": "Human"
},
{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
}
]
},
{
"diseaseId": 978,
"name": "Cardiofaciocutaneous syndrome 2; CFC2",
"description": "",
"synonyms": [
{
"name": "Cardiofaciocutaneous syndrome"
}
],
"databaseLinks": [
{
"accession": "615278",
"database": "OMIM",
"url": "https://www.omim.org/entry/615278",
"species": "Human"
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{
"accession": "ORPHA1340",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1340",
"species": "Human"
}
]
},
{
"diseaseId": 761,
"name": "Pneumocystis pneumonia",
"description": "",
"synonyms": [
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"databaseLinks": [
{
"accession": "DOID:11339",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11339",
"species": "Human"
}
]
},
{
"diseaseId": 1229,
"name": "Cutaneous T cell lymphoma",
"description": "A type of non-Hodgkin's lymphoma, primarily presenting in skin lesions.",
"synonyms": [
{
"name": "CTCL"
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{
"name": "cutaneous T-cell lymphoma"
}
],
"databaseLinks": [
{
"accession": "DOID:0060061",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060061",
"species": "Human"
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]
},
{
"diseaseId": 407,
"name": "Hairy cell leukemia",
"description": "",
"synonyms": [
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"databaseLinks": [
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"accession": "DOID:285",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_285",
"species": "Human"
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{
"accession": "ORPHA58017",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=58017",
"species": "Human"
}
]
},
{
"diseaseId": 1084,
"name": "Hyperinsulinemic hypoglycemia, familial, 3; HHF3",
"description": "",
"synonyms": [
{
"name": "Hyperinsulinemic hypoglycemia"
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{
"name": "Hyperinsulinism due to glucokinase deficiency"
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],
"databaseLinks": [
{
"accession": "DOID:13317",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13317",
"species": "Human"
},
{
"accession": "602485",
"database": "OMIM",
"url": "https://www.omim.org/entry/602485",
"species": "Human"
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{
"accession": "ORPHA79299",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79299",
"species": "Human"
}
]
},
{
"diseaseId": 90,
"name": "Ataxia-telangiectasia",
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"synonyms": [
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"databaseLinks": [
{
"accession": "DOID:12704",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12704",
"species": "Human"
},
{
"accession": "208900",
"database": "OMIM",
"url": "https://www.omim.org/entry/208900",
"species": "Human"
},
{
"accession": "ORPHA100",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100",
"species": "Human"
}
]
},
{
"diseaseId": 904,
"name": "Temporal lobe epilepsy",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:3328",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3328",
"species": "Human"
}
]
},
{
"diseaseId": 443,
"name": "Hydrocephalus",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:10908",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10908",
"species": "Human"
}
]
},
{
"diseaseId": 387,
"name": "Generalized epilepsy with febrile seizures-plus",
"description": "",
"synonyms": [
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"databaseLinks": [
{
"accession": "DOID:0060170",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060170",
"species": "Human"
},
{
"accession": "ORPHA36387",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36387",
"species": "Human"
}
]
},
{
"diseaseId": 39,
"name": "Acute promyelocytic leukemia; APL",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0060318",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060318",
"species": "Human"
},
{
"accession": "612376",
"database": "OMIM",
"url": "https://www.omim.org/entry/612376",
"species": "Human"
},
{
"accession": "ORPHA520",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=520",
"species": "Human"
}
]
},
{
"diseaseId": 690,
"name": "Night blindness, congenital stationary, type 1E; CSNB1E",
"description": "",
"synonyms": [
{
"name": "Congenital stationary night blindness"
}
],
"databaseLinks": [
{
"accession": "DOID:0050534",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050534",
"species": "Human"
},
{
"accession": "614565",
"database": "OMIM",
"url": "https://www.omim.org/entry/614565",
"species": "Human"
},
{
"accession": "ORPHA215",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=215",
"species": "Human"
}
]
},
{
"diseaseId": 526,
"name": "Chromosome 10q23 deletion syndrome",
"description": "",
"synonyms": [
{
"name": "Juvenile polyposis of infancy"
}
],
"databaseLinks": [
{
"accession": "612242",
"database": "OMIM",
"url": "https://www.omim.org/entry/612242",
"species": "Human"
},
{
"accession": "ORPHA79076",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79076",
"species": "Human"
}
]
},
{
"diseaseId": 393,
"name": "Gitelman syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050450",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050450",
"species": "Human"
},
{
"accession": "263800",
"database": "OMIM",
"url": "https://www.omim.org/entry/263800",
"species": "Human"
},
{
"accession": "ORPHA358",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=358",
"species": "Human"
}
]
},
{
"diseaseId": 524,
"name": "Juvenile myoclonic epilepsy",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4890",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4890",
"species": "Human"
},
{
"accession": "ORPHA307",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=307",
"species": "Human"
}
]
},
{
"diseaseId": 312,
"name": "Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6",
"description": "",
"synonyms": [
{
"name": "Idiopathic generalized epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:1827",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1827",
"species": "Human"
},
{
"accession": "611942",
"database": "OMIM",
"url": "https://www.omim.org/entry/611942",
"species": "Human"
}
]
},
{
"diseaseId": 1151,
"name": "Bosch-Boonstra-Schaaf optic atrophy syndrome; BBSOAS",
"description": "",
"synonyms": [
{
"name": "Optic atrophy-intellectual disability syndrome"
}
],
"databaseLinks": [
{
"accession": "615722",
"database": "OMIM",
"url": "https://www.omim.org/entry/615722",
"species": "Human"
},
{
"accession": "ORPHA401777",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=401777",
"species": "Human"
}
]
},
{
"diseaseId": 498,
"name": "Inherited isolated adrenal insufficiency due to CYP11A1 deficiency",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA289548",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=289548",
"species": "Human"
}
]
},
{
"diseaseId": 862,
"name": "Sickle cell anemia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:10923",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10923",
"species": "Human"
}
]
},
{
"diseaseId": 469,
"name": "Hypoinsulinemic hypoglycemia with hemihypertrophy",
"synonyms": [
],
"databaseLinks": [
{
"accession": "240900",
"database": "OMIM",
"url": "https://www.omim.org/entry/240900",
"species": "Human"
},
{
"accession": "ORPHA293964",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=293964",
"species": "Human"
}
]
},
{
"diseaseId": 494,
"name": "Inflammation",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 683,
"name": "Neurosensory nonsyndromic recessive deafness 4; NSRD4",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive non-syndromic sensorineural deafness type DFNB"
},
{
"name": "Dilated vestibular aquaduct"
},
{
"name": "Enlarged vestibular aqueduct"
}
],
"databaseLinks": [
{
"accession": "DOID:0050332",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050332",
"species": "Human"
},
{
"accession": "600791",
"database": "OMIM",
"url": "https://www.omim.org/entry/600791",
"species": "Human"
},
{
"accession": "ORPHA90636",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90636",
"species": "Human"
}
]
},
{
"diseaseId": 118,
"name": "Spinocerebellar ataxia, autosomal recessive 18; SCAR18",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
}
],
"databaseLinks": [
{
"accession": "616204",
"database": "OMIM",
"url": "https://www.omim.org/entry/616204",
"species": "Human"
},
{
"accession": "ORPHA363432",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=363432",
"species": "Human"
}
]
},
{
"diseaseId": 793,
"name": "Prothrombin deficiency, congenital",
"description": "",
"synonyms": [
{
"name": "Congenital factor II deficiency"
},
{
"name": "Prothrombin deficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:2235",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2235",
"species": "Human"
},
{
"accession": "613679",
"database": "OMIM",
"url": "https://www.omim.org/entry/613679",
"species": "Human"
},
{
"accession": "ORPHA325",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=325",
"species": "Human"
}
]
},
{
"diseaseId": 608,
"name": "Major affective disorder 2; MAFD2",
"description": "",
"synonyms": [
{
"name": "Bipolar affective disorder"
}
],
"databaseLinks": [
{
"accession": "309200",
"database": "OMIM",
"url": "https://www.omim.org/entry/309200",
"species": "Human"
}
]
},
{
"diseaseId": 317,
"name": "Epilepsy, nocturnal frontal lobe, 3; ENFL3",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant nocturnal frontal lobe epilepsy"
}
],
"databaseLinks": [
{
"accession": "605375",
"database": "OMIM",
"url": "https://www.omim.org/entry/605375",
"species": "Human"
},
{
"accession": "ORPHA98784",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98784",
"species": "Human"
}
]
},
{
"diseaseId": 1265,
"name": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)",
"description": "PHARC is caused by homozygous or compound heterozygous mutation in the ABHD12 gene",
"synonyms": [
],
"databaseLinks": [
{
"accession": "612674",
"database": "OMIM",
"url": "https://www.omim.org/entry/612674",
"species": "Human"
}
]
},
{
"diseaseId": 702,
"name": "Nystagmus 6, congenital, X-linked; NYS6",
"description": "",
"synonyms": [
{
"name": "Congenital nystagmus"
},
{
"name": "Idiopathic infantile nystagmus"
}
],
"databaseLinks": [
{
"accession": "DOID:9649",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9649",
"species": "Human"
},
{
"accession": "300814",
"database": "OMIM",
"url": "https://www.omim.org/entry/300814",
"species": "Human"
},
{
"accession": "ORPHA651",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=651",
"species": "Human"
}
]
},
{
"diseaseId": 488,
"name": "Common variable immunodeficiency",
"description": "CVID is a group of genetically heterogeneous primary immunodeficiencies. Whilst a small number of cases can be linked to deficiency in a single gene (see the OMIM links as examples), the cause is likely to be polygenic in the majority of cases. Symptoms vary between patients, but CVID is generally characterised by a failure to produce antibodies (hypogammaglobulinemia) and therefore susceptibility to recurrent infections and inflammation (including autoimmunity).",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:12177",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12177",
"species": "Human"
},
{
"accession": "613495",
"database": "OMIM",
"url": "https://www.omim.org/entry/613495",
"species": "Human"
},
{
"accession": "607594",
"database": "OMIM",
"url": "https://www.omim.org/entry/607594",
"species": "Human"
},
{
"accession": "606453",
"database": "OMIM",
"url": "https://www.omim.org/entry/606453",
"species": "Human"
},
{
"accession": "240500",
"database": "OMIM",
"url": "https://www.omim.org/entry/240500",
"species": "Human"
},
{
"accession": "613493",
"database": "OMIM",
"url": "https://www.omim.org/entry/613493",
"species": "Human"
},
{
"accession": "ORPHA1572",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1572",
"species": "Human"
}
]
},
{
"diseaseId": 1048,
"name": "B-cell lymphoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:707",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_707",
"species": "Human"
}
]
},
{
"diseaseId": 1101,
"name": "Complement factor B deficiency; CFBD",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "615561",
"database": "OMIM",
"url": "https://www.omim.org/entry/615561",
"species": "Human"
}
]
},
{
"diseaseId": 126,
"name": "Bartter syndrome, antenatal, type 1",
"description": "",
"synonyms": [
{
"name": "Antenatal Bartter syndrome"
},
{
"name": "Bartter disease"
}
],
"databaseLinks": [
{
"accession": "DOID:445",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_445",
"species": "Human"
},
{
"accession": "601678",
"database": "OMIM",
"url": "https://www.omim.org/entry/601678",
"species": "Human"
},
{
"accession": "ORPHA93604",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93604",
"species": "Human"
}
]
},
{
"diseaseId": 194,
"name": "Total congenital cataract",
"description": "",
"synonyms": [
{
"name": "Cataract 6, multiple types; CTRCT6"
}
],
"databaseLinks": [
{
"accession": "116600",
"database": "OMIM",
"url": "https://www.omim.org/entry/116600",
"species": "Human"
},
{
"accession": "ORPHA98994",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98994",
"species": "Human"
}
]
},
{
"diseaseId": 360,
"name": "Cardiomyopathy, familial hypertrophic, 1; CMH1",
"description": "",
"synonyms": [
{
"name": "Familial hypertrophic cardiomyopathy"
},
{
"name": "Familial isolated hypertrophic cardiomyopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:11986",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11986",
"species": "Human"
},
{
"accession": "192600",
"database": "OMIM",
"url": "https://www.omim.org/entry/192600",
"species": "Human"
},
{
"accession": "ORPHA155",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=155",
"species": "Human"
}
]
},
{
"diseaseId": 476,
"name": "Hypospadias 1, X-linked; HYSP1",
"description": "",
"synonyms": [
{
"name": "Familial hypospadia"
}
],
"databaseLinks": [
{
"accession": "DOID:10892",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10892",
"species": "Human"
},
{
"accession": "300633",
"database": "OMIM",
"url": "https://www.omim.org/entry/300633",
"species": "Human"
},
{
"accession": "ORPHA440",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=440",
"species": "Human"
}
]
},
{
"diseaseId": 99,
"name": "Atrial fibrillation, familial, 7; ATFB7",
"description": "",
"synonyms": [
{
"name": "Familial atrial fibrillation"
}
],
"databaseLinks": [
{
"accession": "DOID:0050650",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050650",
"species": "Human"
},
{
"accession": "612240",
"database": "OMIM",
"url": "https://www.omim.org/entry/612240",
"species": "Human"
},
{
"accession": "ORPHA334",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=334",
"species": "Human"
}
]
},
{
"diseaseId": 883,
"name": "Spondyloepimetaphyseal dysplasia, Missouri type",
"description": "",
"synonyms": [
{
"name": "Metaphyseal anadysplasia"
},
{
"name": "Metaphyseal anadysplasia 1"
}
],
"databaseLinks": [
{
"accession": "DOID:0080030",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0080030",
"species": "Human"
},
{
"accession": "602111",
"database": "OMIM",
"url": "https://www.omim.org/entry/602111",
"species": "Human"
},
{
"accession": "ORPHA93356",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93356",
"species": "Human"
},
{
"accession": "ORPHA1040",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1040",
"species": "Human"
}
]
},
{
"diseaseId": 629,
"name": "Migraine, with or without aura, susceptibility to, 13",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:6364",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6364",
"species": "Human"
},
{
"accession": "613656",
"database": "OMIM",
"url": "https://www.omim.org/entry/613656",
"species": "Human"
}
]
},
{
"diseaseId": 726,
"name": "Ovarian hyperstimulation syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:5425",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5425",
"species": "Human"
},
{
"accession": "608115",
"database": "OMIM",
"url": "https://www.omim.org/entry/608115",
"species": "Human"
},
{
"accession": "ORPHA64739",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=64739",
"species": "Human"
}
]
},
{
"diseaseId": 374,
"name": "Fertile eunuch syndrome",
"synonyms": [
],
"databaseLinks": [
{
"accession": "228300",
"database": "OMIM",
"url": "https://www.omim.org/entry/228300",
"species": "Human"
},
{
"accession": "ORPHA432",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=432",
"species": "Human"
}
]
},
{
"diseaseId": 1146,
"name": "Celiac disease, susceptibility to, 3; CELIAC3",
"description": "",
"synonyms": [
{
"name": "Celiac disease"
},
{
"name": "Gluten-sensitive enteropathy, susceptibility to, 3"
}
],
"databaseLinks": [
{
"accession": "DOID:10608",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10608",
"species": "Human"
},
{
"accession": "609755",
"database": "OMIM",
"url": "https://www.omim.org/entry/609755",
"species": "Human"
},
{
"accession": "ORPHA555",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=555",
"species": "Human"
}
]
},
{
"diseaseId": 1215,
"name": "Anaplastic large cell lymphoma",
"description": "A non-Hodgkin lymphoma involving aberrant T-cells encompassing at least 4 different clinical entities that all reveal the presence of large pleomorphic cells expressing CD30 and T-cell markers under histological examination.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050744",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050744",
"species": "Human"
}
]
},
{
"diseaseId": 1210,
"name": "Duchenne muscular dystrophy",
"description": "A muscular dystrophy caused by mutations in the DMD gene found on the X chromosome, therefore males are affected whilst females can be carriers. Characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:11723",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11723",
"species": "Human"
},
{
"accession": "19518854",
"database": "OMIM",
"url": "https://www.omim.org/entry/19518854",
"species": "Human"
}
]
},
{
"diseaseId": 719,
"name": "Osteoarthritis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:8398",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8398",
"species": "Human"
}
]
},
{
"diseaseId": 756,
"name": "Pigmented nodular adrenocortical disease, primary, 1; PPNAD1",
"description": "",
"synonyms": [
{
"name": "Primary pigmented nodular adrenocortical disease"
}
],
"databaseLinks": [
{
"accession": "610489",
"database": "OMIM",
"url": "https://www.omim.org/entry/610489",
"species": "Human"
},
{
"accession": "ORPHA189439",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=189439",
"species": "Human"
}
]
},
{
"diseaseId": 318,
"name": "Epilepsy, nocturnal frontal lobe, 5; ENFL5",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant nocturnal frontal lobe epilepsy"
}
],
"databaseLinks": [
{
"accession": "615005",
"database": "OMIM",
"url": "https://www.omim.org/entry/615005",
"species": "Human"
},
{
"accession": "ORPHA98784",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98784",
"species": "Human"
}
]
},
{
"diseaseId": 933,
"name": "Tropical pancreatitis",
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],
"databaseLinks": [
{
"accession": "ORPHA103918",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=103918",
"species": "Human"
}
]
},
{
"diseaseId": 647,
"name": "Multiple pterygium syndrome, lethal type; LMPS",
"description": "A fetal akinesia deformation sequence (FADS) disorder",
"synonyms": [
{
"name": "Lethal multiple pterygium syndrome"
}
],
"databaseLinks": [
{
"accession": "253290",
"database": "OMIM",
"url": "https://www.omim.org/entry/253290",
"species": "Human"
},
{
"accession": "ORPHA33108",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=33108",
"species": "Human"
}
]
},
{
"diseaseId": 442,
"name": "Huntington disease",
"description": "",
"synonyms": [
{
"name": "Huntington's disease"
}
],
"databaseLinks": [
{
"accession": "DOID:12858",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12858",
"species": "Human"
},
{
"accession": "143100",
"database": "OMIM",
"url": "https://www.omim.org/entry/143100",
"species": "Human"
}
]
},
{
"diseaseId": 354,
"name": "Familial hyperaldosteronism type III",
"synonyms": [
],
"databaseLinks": [
{
"accession": "613677",
"database": "OMIM",
"url": "https://www.omim.org/entry/613677",
"species": "Human"
},
{
"accession": "ORPHA251274",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251274",
"species": "Human"
}
]
},
{
"diseaseId": 593,
"name": "Microphthalmia, syndromic 12; MCOPS12",
"description": "",
"synonyms": [
{
"name": "Matthew-Wood syndrome"
}
],
"databaseLinks": [
{
"accession": "615524",
"database": "OMIM",
"url": "https://www.omim.org/entry/615524",
"species": "Human"
},
{
"accession": "ORPHA2470",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2470",
"species": "Human"
}
]
},
{
"diseaseId": 12,
"name": "46,XX sex reversal 1; SRXX1",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14450",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14450",
"species": "Human"
},
{
"accession": "400045",
"database": "OMIM",
"url": "https://www.omim.org/entry/400045",
"species": "Human"
}
]
},
{
"diseaseId": 479,
"name": "Hypotrichosis 8; HYPT8",
"description": "",
"synonyms": [
{
"name": "Hypotrichosis"
},
{
"name": "Hypotrichosis simplex"
},
{
"name": "Woolly hair"
}
],
"databaseLinks": [
{
"accession": "DOID:4535",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4535",
"species": "Human"
},
{
"accession": "278150",
"database": "OMIM",
"url": "https://www.omim.org/entry/278150",
"species": "Human"
},
{
"accession": "ORPHA55654",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=55654",
"species": "Human"
},
{
"accession": "ORPHA170",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=170",
"species": "Human"
}
]
},
{
"diseaseId": 293,
"name": "Early repolarization syndrome",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1120,
"name": "Pulmonary venoocclusive disease 2, autosomal recessive; PVOD2",
"description": "",
"synonyms": [
{
"name": "Pulmonary venoocclusive disease"
}
],
"databaseLinks": [
{
"accession": "DOID:5453",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5453",
"species": "Human"
},
{
"accession": "234810",
"database": "OMIM",
"url": "https://www.omim.org/entry/234810",
"species": "Human"
},
{
"accession": "ORPHA31837",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=31837",
"species": "Human"
}
]
},
{
"diseaseId": 495,
"name": "Inflammatory myofibroblastic tumor",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA178342",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=178342",
"species": "Human"
}
]
},
{
"diseaseId": 1257,
"name": "Immunodeficiency 9",
"description": "IMD9 is a severe, autosomal recessive disorder caused by loss-of-function mutations in the ORAI1 gene which result in deficient CRAC channel function, and defective T-cell activation. The disease is characterised by neonatal onset of recurrent infections, congenital myopathy and ectodermal dysplasia.",
"synonyms": [
{
"name": "Immune dysfunction with T-cell inactivation due to calcium entry defect 1"
}
],
"databaseLinks": [
{
"accession": "612782",
"database": "OMIM",
"url": "https://www.omim.org/entry/612782",
"species": "Human"
}
]
},
{
"diseaseId": 154,
"name": "Brachydactyly, type C; BDC",
"description": "",
"synonyms": [
{
"name": "Brachydactyly"
}
],
"databaseLinks": [
{
"accession": "DOID:0050581",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050581",
"species": "Human"
},
{
"accession": "113100",
"database": "OMIM",
"url": "https://www.omim.org/entry/113100",
"species": "Human"
},
{
"accession": "ORPHA93384",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93384",
"species": "Human"
}
]
},
{
"diseaseId": 1283,
"name": "Spinocerebellar Ataxia 42",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "604065",
"database": "OMIM",
"url": "https://www.omim.org/entry/604065",
"species": "Human"
}
]
},
{
"diseaseId": 234,
"name": "Colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6",
"description": "",
"synonyms": [
{
"name": "Hereditary nonpolyposis colon cancer"
}
],
"databaseLinks": [
{
"accession": "614331",
"database": "OMIM",
"url": "https://www.omim.org/entry/614331",
"species": "Human"
},
{
"accession": "ORPHA144",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=144",
"species": "Human"
}
]
},
{
"diseaseId": 657,
"name": "Myeloid neoplasm associated with FGFR1 rearrangement",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA168953",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168953",
"species": "Human"
}
]
},
{
"diseaseId": 474,
"name": "Hypopituitarism with pituitary stalk interruption",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 935,
"name": "Long QT syndrome 2; LQT2",
"description": "",
"synonyms": [
{
"name": "Long QT syndrome"
},
{
"name": "Romano-Ward syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:2843",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2843",
"species": "Human"
},
{
"accession": "613688",
"database": "OMIM",
"url": "https://www.omim.org/entry/613688",
"species": "Human"
},
{
"accession": "ORPHA101016",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=101016",
"species": "Human"
}
]
},
{
"diseaseId": 675,
"name": "Nephrotic syndrome, type 9; NPHS9",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "615573",
"database": "OMIM",
"url": "https://www.omim.org/entry/615573",
"species": "Human"
}
]
},
{
"diseaseId": 748,
"name": "Persistent Mullerian duct syndrome, types I and II",
"synonyms": [
],
"databaseLinks": [
{
"accession": "261550",
"database": "OMIM",
"url": "https://www.omim.org/entry/261550",
"species": "Human"
},
{
"accession": "ORPHA2856",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2856",
"species": "Human"
}
]
},
{
"diseaseId": 696,
"name": "Nonautoimmune hyperthyroidism",
"description": "",
"synonyms": [
{
"name": "Familial hyperthyroidism due to mutations in TSH receptor"
}
],
"databaseLinks": [
{
"accession": "609152",
"database": "OMIM",
"url": "https://www.omim.org/entry/609152",
"species": "Human"
},
{
"accession": "ORPHA424",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=424",
"species": "Human"
}
]
},
{
"diseaseId": 969,
"name": "Childhood absence epilepsy",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1825",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1825",
"species": "Human"
},
{
"accession": "ORPHA64280",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=64280",
"species": "Human"
}
]
},
{
"diseaseId": 1179,
"name": "Ohtahara syndrome",
"description": "A neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "308350",
"database": "OMIM",
"url": "https://www.omim.org/entry/308350",
"species": "Human"
},
{
"accession": "ORPHA1934",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1934",
"species": "Human"
}
]
},
{
"diseaseId": 264,
"name": "Crouzon syndrome with acanthosis nigricans",
"synonyms": [
],
"databaseLinks": [
{
"accession": "612247",
"database": "OMIM",
"url": "https://www.omim.org/entry/612247",
"species": "Human"
},
{
"accession": "ORPHA93262",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93262",
"species": "Human"
}
]
},
{
"diseaseId": 1253,
"name": "Cold agglutinin disease",
"description": "Cold agglutinin disease is an autoimmune hemolytic anemia caused by autoantibodies that destroy erythrocytes via activation of the C1-complex of the classical complement pathway. The disease causes chronic anemia, severe fatigue and potentially fatal thrombotic events.",
"synonyms": [
{
"name": "autoimmune hemolytic anemia"
},
{
"name": "chronic cold agglutinin disease"
},
{
"name": "cold agglutinin syndrome"
}
],
"databaseLinks": [
{
"accession": "ORPHA56425",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=56425",
"species": "Human"
}
]
},
{
"diseaseId": 270,
"name": "Cystic fibrosis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1485",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1485",
"species": "Human"
},
{
"accession": "219700",
"database": "OMIM",
"url": "https://www.omim.org/entry/219700",
"species": "Human"
},
{
"accession": "ORPHA586",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=586",
"species": "Human"
}
]
},
{
"diseaseId": 898,
"name": "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA98849",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98849",
"species": "Human"
}
]
},
{
"diseaseId": 435,
"name": "Herpetic encephalitis",
"description": "",
"synonyms": [
{
"name": "Herpes simplex encephalitis"
},
{
"name": "Herpes simplex virus encephalitis"
},
{
"name": "HSV encephalitis"
}
],
"databaseLinks": [
{
"accession": "DOID:0050181",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050181",
"species": "Human"
},
{
"accession": "ORPHA1930",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1930",
"species": "Human"
}
]
},
{
"diseaseId": 384,
"name": "Gastric cancer, hereditary diffuse; HDGC",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "137215",
"database": "OMIM",
"url": "https://www.omim.org/entry/137215",
"species": "Human"
}
]
},
{
"diseaseId": 1145,
"name": "Autoimmune lymphoproliferative syndrome, type V; ALPS5",
"description": "",
"synonyms": [
{
"name": "Autoimmune lymphoproliferative syndrome"
},
{
"name": "CTLA4 haploinsuffiency with autoimmune infiltration; CHAI"
}
],
"databaseLinks": [
{
"accession": "DOID:6688",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6688",
"species": "Human"
},
{
"accession": "616100",
"database": "OMIM",
"url": "https://www.omim.org/entry/616100",
"species": "Human"
}
]
},
{
"diseaseId": 351,
"name": "Familial gestational hyperthyroidism",
"synonyms": [
],
"databaseLinks": [
{
"accession": "603373",
"database": "OMIM",
"url": "https://www.omim.org/entry/603373",
"species": "Human"
},
{
"accession": "ORPHA99819",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99819",
"species": "Human"
}
]
},
{
"diseaseId": 116,
"name": "Mental retardation, autosomal dominant 6; MRD6",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant non-syndromic intellectual disability"
}
],
"databaseLinks": [
{
"accession": "DOID:0060307",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060307",
"species": "Human"
},
{
"accession": "613970",
"database": "OMIM",
"url": "https://www.omim.org/entry/613970",
"species": "Human"
},
{
"accession": "ORPHA178469",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=178469",
"species": "Human"
}
]
},
{
"diseaseId": 970,
"name": "GLUT1 deficiency syndrome 1; GLUT1DS1",
"description": "",
"synonyms": [
{
"name": "Encephalopathy due to GLUT1 deficiency"
}
],
"databaseLinks": [
{
"accession": "606777",
"database": "OMIM",
"url": "https://www.omim.org/entry/606777",
"species": "Human"
},
{
"accession": "ORPHA71277",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71277",
"species": "Human"
}
]
},
{
"diseaseId": 732,
"name": "Parkinson Disease",
"description": "",
"synonyms": [
{
"name": "Parkinson's disease"
}
],
"databaseLinks": [
{
"accession": "DOID:14330",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14330",
"species": "Human"
},
{
"accession": "168600",
"database": "OMIM",
"url": "https://www.omim.org/entry/168600",
"species": "Human"
}
]
},
{
"diseaseId": 837,
"name": "Scaphocephaly, maxillary retrusion, and mental retardation",
"description": "",
"synonyms": [
{
"name": "Familial scaphocephaly syndrome, McGillivray type"
}
],
"databaseLinks": [
{
"accession": "609579",
"database": "OMIM",
"url": "https://www.omim.org/entry/609579",
"species": "Human"
},
{
"accession": "ORPHA168624",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168624",
"species": "Human"
}
]
},
{
"diseaseId": 826,
"name": "Retinitis pigmentosa 49; RP49",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
},
{
"accession": "613756",
"database": "OMIM",
"url": "https://www.omim.org/entry/613756",
"species": "Human"
},
{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
}
]
},
{
"diseaseId": 431,
"name": "Hereditary pancreatitis",
"description": "",
"synonyms": [
{
"name": "Hereditary chronic pancreatitis"
}
],
"databaseLinks": [
{
"accession": "167800",
"database": "OMIM",
"url": "https://www.omim.org/entry/167800",
"species": "Human"
},
{
"accession": "ORPHA676",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=676",
"species": "Human"
}
]
},
{
"diseaseId": 1226,
"name": "Vasculitis",
"description": "Inflammation of the blood vessels.",
"synonyms": [
{
"name": "Angiitis"
}
],
"databaseLinks": [
{
"accession": "DOID:865",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_865",
"species": "Human"
}
]
},
{
"diseaseId": 911,
"name": "Thrombocythemia 3; THCYT3",
"description": "",
"synonyms": [
{
"name": "Essential thrombocythemia"
},
{
"name": "Essential thrombocytosis"
}
],
"databaseLinks": [
{
"accession": "614521",
"database": "OMIM",
"url": "https://www.omim.org/entry/614521",
"species": "Human"
},
{
"accession": "ORPHA3318",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3318",
"species": "Human"
}
]
},
{
"diseaseId": 491,
"name": "Indifference to pain, congenital, autosomal recessive; CIP",
"description": "",
"synonyms": [
{
"name": "Channelopathy-associated congenital insensitivity to pain"
}
],
"databaseLinks": [
{
"accession": "243000",
"database": "OMIM",
"url": "https://www.omim.org/entry/243000",
"species": "Human"
},
{
"accession": "ORPHA88642",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=88642",
"species": "Human"
}
]
},
{
"diseaseId": 462,
"name": "Hypoglycemia, Leucine-Induced; LIH",
"synonyms": [
],
"databaseLinks": [
{
"accession": "240800",
"database": "OMIM",
"url": "https://www.omim.org/entry/240800",
"species": "Human"
}
]
},
{
"diseaseId": 734,
"name": "Parkinson disease 6, autosomal recessive early-onset; PARK6",
"description": "",
"synonyms": [
{
"name": "Parkinson's disease"
},
{
"name": "Young adult-onset Parkinsonism"
}
],
"databaseLinks": [
{
"accession": "DOID:14330",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14330",
"species": "Human"
},
{
"accession": "605909",
"database": "OMIM",
"url": "https://www.omim.org/entry/605909",
"species": "Human"
},
{
"accession": "ORPHA2828",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2828",
"species": "Human"
}
]
},
{
"diseaseId": 855,
"name": "Short QT syndrome-1; SQT1",
"description": "",
"synonyms": [
{
"name": "Familial short QT syndrome"
}
],
"databaseLinks": [
{
"accession": "609620",
"database": "OMIM",
"url": "https://www.omim.org/entry/609620",
"species": "Human"
},
{
"accession": "ORPHA51083",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=51083",
"species": "Human"
}
]
},
{
"diseaseId": 1272,
"name": "focal dermal hypoplasia",
"description": "FDH is an X-linked dominant disorder. It is characterised by patchy hypoplastic skin and digital, ocular, and dental malformations.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "305600",
"database": "OMIM",
"url": "https://www.omim.org/entry/305600",
"species": "Human"
}
]
},
{
"diseaseId": 436,
"name": "Heterotaxy, visceral, 4, autosomal; HTX4",
"description": "",
"synonyms": [
{
"name": "Situs ambiguus"
},
{
"name": "Visceral heterotaxy"
}
],
"databaseLinks": [
{
"accession": "DOID:0050545",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050545",
"species": "Human"
},
{
"accession": "613751",
"database": "OMIM",
"url": "https://www.omim.org/entry/613751",
"species": "Human"
},
{
"accession": "ORPHA157769",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=157769",
"species": "Human"
}
]
},
{
"diseaseId": 1248,
"name": "Mycosis fungoides",
"description": "MF is a cutaneous T-cell lymphoma characterised by the development of plaques of skin lesions, and itchy skin, that can develop to tumours of the skin, that may spread to other tissues.",
"synonyms": [
{
"name": "Alibert-Bazin syndrome"
},
{
"name": "granuloma fungoides"
}
],
"databaseLinks": [
{
"accession": "254400",
"database": "OMIM",
"url": "https://www.omim.org/entry/254400",
"species": "Human"
},
{
"accession": "ORPHA2584",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2584",
"species": "Human"
}
]
},
{
"diseaseId": 180,
"name": "Cardiofaciocutaneous syndrome 1; CFC1",
"description": "",
"synonyms": [
{
"name": "Cardiofaciocutaneous syndrome"
}
],
"databaseLinks": [
{
"accession": "115150",
"database": "OMIM",
"url": "https://www.omim.org/entry/115150",
"species": "Human"
},
{
"accession": "ORPHA1340",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1340",
"species": "Human"
}
]
},
{
"diseaseId": 967,
"name": "Dystonia 9; DYT9",
"description": "",
"synonyms": [
{
"name": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
}
],
"databaseLinks": [
{
"accession": "601042",
"database": "OMIM",
"url": "https://www.omim.org/entry/601042",
"species": "Human"
},
{
"accession": "ORPHA53583",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=53583",
"species": "Human"
}
]
},
{
"diseaseId": 870,
"name": "Speech and neuromotor retardation, hyperactivity, cranial malformation, seizures",
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],
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},
{
"diseaseId": 1219,
"name": "non-Hodgkin lymphoma",
"description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.",
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],
"databaseLinks": [
{
"accession": "DOID:0060060",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060060",
"species": "Human"
},
{
"accession": "605027",
"database": "OMIM",
"url": "https://www.omim.org/entry/605027",
"species": "Human"
}
]
},
{
"diseaseId": 626,
"name": "Microvascular complications of diabetes, susceptibility to, 3; MVCD3",
"description": "",
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],
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"accession": "612624",
"database": "OMIM",
"url": "https://www.omim.org/entry/612624",
"species": "Human"
}
]
},
{
"diseaseId": 263,
"name": "Crouzon syndrome",
"description": "",
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"name": "Crouzon disease"
}
],
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"accession": "DOID:2339",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2339",
"species": "Human"
},
{
"accession": "123500",
"database": "OMIM",
"url": "https://www.omim.org/entry/123500",
"species": "Human"
},
{
"accession": "ORPHA207",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=207",
"species": "Human"
}
]
},
{
"diseaseId": 836,
"name": "Saethre-Chotzen syndrome",
"description": "",
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"accession": "DOID:14768",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14768",
"species": "Human"
},
{
"accession": "101400",
"database": "OMIM",
"url": "https://www.omim.org/entry/101400",
"species": "Human"
},
{
"accession": "ORPHA794",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=794",
"species": "Human"
}
]
},
{
"diseaseId": 784,
"name": "Primary sclerosing cholangitis",
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],
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"accession": "ORPHA171",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=171",
"species": "Human"
}
]
},
{
"diseaseId": 711,
"name": "Oculocutaneous albinism type 1B",
"description": "",
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"name": "Oculocutaneous albinism"
}
],
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"accession": "DOID:0050632",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050632",
"species": "Human"
},
{
"accession": "606952",
"database": "OMIM",
"url": "https://www.omim.org/entry/606952",
"species": "Human"
},
{
"accession": "ORPHA79434",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79434",
"species": "Human"
}
]
},
{
"diseaseId": 470,
"name": "Hypokalemic periodic paralysis, type 1; HOKPP1",
"description": "",
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"name": "Hypokalemic periodic paralysis"
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],
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{
"accession": "DOID:14452",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14452",
"species": "Human"
},
{
"accession": "170400",
"database": "OMIM",
"url": "https://www.omim.org/entry/170400",
"species": "Human"
},
{
"accession": "ORPHA681",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=681",
"species": "Human"
}
]
},
{
"diseaseId": 780,
"name": "Primary aldosteronism, seizures, and neurologic abnormalities; PASNA",
"description": "",
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{
"name": "Aldosterone-producing adenoma with seizures and neurological abnormalities"
}
],
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"accession": "615474",
"database": "OMIM",
"url": "https://www.omim.org/entry/615474",
"species": "Human"
},
{
"accession": "ORPHA369929",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=369929",
"species": "Human"
}
]
},
{
"diseaseId": 768,
"name": "Postaxial acrofacial dysostosis",
"description": "",
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{
"name": "Miller syndrome"
}
],
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"accession": "263750",
"database": "OMIM",
"url": "https://www.omim.org/entry/263750",
"species": "Human"
},
{
"accession": "ORPHA246",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=246",
"species": "Human"
}
]
},
{
"diseaseId": 838,
"name": "Scapuloperoneal spinal muscular atrophy; SPSMA",
"description": "",
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"accession": "181405",
"database": "OMIM",
"url": "https://www.omim.org/entry/181405",
"species": "Human"
}
]
},
{
"diseaseId": 1036,
"name": "Systemic scleroderma",
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"name": "Scleroderma, familial progressive"
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{
"name": "Systemic sclerosis"
}
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"accession": "DOID:418",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_418",
"species": "Human"
},
{
"accession": "181750",
"database": "OMIM",
"url": "https://www.omim.org/entry/181750",
"species": "Human"
},
{
"accession": "ORPHA90291",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90291",
"species": "Human"
}
]
},
{
"diseaseId": 478,
"name": "Hypothyroidism, congenital, nongoitrous, 6; CHNG6",
"description": "",
"synonyms": [
{
"name": "Congenital hypothyroidism"
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{
"name": "Peripheral resistance to thyroid hormones"
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],
"databaseLinks": [
{
"accession": "DOID:0050328",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050328",
"species": "Human"
},
{
"accession": "614450",
"database": "OMIM",
"url": "https://www.omim.org/entry/614450",
"species": "Human"
},
{
"accession": "ORPHA97927",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97927",
"species": "Human"
}
]
},
{
"diseaseId": 149,
"name": "Bladder cancer",
"description": "",
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],
"databaseLinks": [
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"accession": "DOID:11054",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11054",
"species": "Human"
},
{
"accession": "109800",
"database": "OMIM",
"url": "https://www.omim.org/entry/109800",
"species": "Human"
}
]
},
{
"diseaseId": 505,
"name": "Intermittent hypoxia-induced atherogenesis",
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},
{
"diseaseId": 280,
"name": "Diabetes mellitus, noninsulin-dependent; NIDDM",
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"name": "Diabetes mellitus, Type II; T2D"
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{
"name": "Maturity onset diabetes"
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{
"name": "Type 2 diabetes mellitus"
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"accession": "DOID:9352",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9352",
"species": "Human"
},
{
"accession": "125853",
"database": "OMIM",
"url": "https://www.omim.org/entry/125853",
"species": "Human"
}
]
},
{
"diseaseId": 88,
"name": "Asthma, susceptibility to, 2",
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],
"databaseLinks": [
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"accession": "DOID:2841",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2841",
"species": "Human"
},
{
"accession": "608584",
"database": "OMIM",
"url": "https://www.omim.org/entry/608584",
"species": "Human"
}
]
},
{
"diseaseId": 188,
"name": "Cardiomyopathy, familial hypertrophic, 9; CMH9",
"description": "",
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{
"name": "Familial hypertrophic cardiomyopathy"
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{
"name": "Familial isolated hypertrophic cardiomyopathy"
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],
"databaseLinks": [
{
"accession": "DOID:11986",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11986",
"species": "Human"
},
{
"accession": "613765",
"database": "OMIM",
"url": "https://www.omim.org/entry/613765",
"species": "Human"
},
{
"accession": "ORPHA155",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=155",
"species": "Human"
}
]
},
{
"diseaseId": 461,
"name": "Hypochondroplasia",
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],
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"accession": "DOID:0080041",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0080041",
"species": "Human"
},
{
"accession": "146000",
"database": "OMIM",
"url": "https://www.omim.org/entry/146000",
"species": "Human"
},
{
"accession": "ORPHA429",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=429",
"species": "Human"
}
]
},
{
"diseaseId": 240,
"name": "Cone-rod dystrophy 9; CORD9",
"description": "",
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"name": "Cone rod dystrophy"
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],
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{
"accession": "DOID:0050572",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050572",
"species": "Human"
},
{
"accession": "612775",
"database": "OMIM",
"url": "https://www.omim.org/entry/612775",
"species": "Human"
},
{
"accession": "ORPHA1872",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1872",
"species": "Human"
}
]
},
{
"diseaseId": 1057,
"name": "Sepsis",
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"name": "Septicemia"
}
],
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},
{
"diseaseId": 328,
"name": "Episodic ataxia, type 1; EA1",
"description": "",
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"name": "Episodic ataxia"
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{
"name": "Hereditary continuous muscle fiber activity"
}
],
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"accession": "DOID:963",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_963",
"species": "Human"
},
{
"accession": "160120",
"database": "OMIM",
"url": "https://www.omim.org/entry/160120",
"species": "Human"
},
{
"accession": "ORPHA972",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=972",
"species": "Human"
},
{
"accession": "ORPHA37612",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=37612",
"species": "Human"
}
]
},
{
"diseaseId": 717,
"name": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques",
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{
"name": "Olmsted syndrome"
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],
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{
"accession": "614594",
"database": "OMIM",
"url": "https://www.omim.org/entry/614594",
"species": "Human"
},
{
"accession": "ORPHA659",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=659",
"species": "Human"
}
]
},
{
"diseaseId": 634,
"name": "Minimal pigment oculocutaneous albinism type 1",
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"accession": "ORPHA352734",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=352734",
"species": "Human"
}
]
},
{
"diseaseId": 1046,
"name": "Bone density defects",
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},
{
"diseaseId": 650,
"name": "Muscular dystrophy, limb-girdle, type 2",
"description": "",
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],
"databaseLinks": [
{
"accession": "DOID:11724",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11724",
"species": "Human"
},
{
"accession": "608807",
"database": "OMIM",
"url": "https://www.omim.org/entry/608807",
"species": "Human"
}
]
},
{
"diseaseId": 703,
"name": "Obesity",
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"accession": "DOID:9970",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9970",
"species": "Human"
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{
"accession": "601665",
"database": "OMIM",
"url": "https://www.omim.org/entry/601665",
"species": "Human"
}
]
},
{
"diseaseId": 210,
"name": "Epilepsy, idiopathic generalized, susceptibility to, 13; EIG13",
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{
"name": "Idiopathic generalized epilepsy"
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{
"name": "Juvenile myoclonic epilepsy"
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],
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"accession": "DOID:1827",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1827",
"species": "Human"
},
{
"accession": "DOID:1825",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1825",
"species": "Human"
},
{
"accession": "611136",
"database": "OMIM",
"url": "https://www.omim.org/entry/611136",
"species": "Human"
},
{
"accession": "ORPHA64280",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=64280",
"species": "Human"
},
{
"accession": "ORPHA307",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=307",
"species": "Human"
}
]
},
{
"diseaseId": 226,
"name": "Classical phenylketonuria",
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{
"name": "Phenylketonuria"
}
],
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{
"accession": "DOID:9281",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9281",
"species": "Human"
},
{
"accession": "261600",
"database": "OMIM",
"url": "https://www.omim.org/entry/261600",
"species": "Human"
},
{
"accession": "ORPHA79254",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79254",
"species": "Human"
}
]
},
{
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},
{
"diseaseId": 843,
"name": "Segawa syndrome, autosomal recessive",
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{
"name": "Autosomal recessive dopa-responsive dystonia"
}
],
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{
"accession": "605407",
"database": "OMIM",
"url": "https://www.omim.org/entry/605407",
"species": "Human"
},
{
"accession": "ORPHA101150",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=101150",
"species": "Human"
}
]
},
{
"diseaseId": 710,
"name": "Oculocutaneous albinism type 1A",
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"name": "Oculocutaneous albinism"
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],
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{
"accession": "DOID:0050632",
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"url": "http://purl.obolibrary.org/obo/DOID_0050632",
"species": "Human"
},
{
"accession": "203100",
"database": "OMIM",
"url": "https://www.omim.org/entry/203100",
"species": "Human"
},
{
"accession": "ORPHA79431",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79431",
"species": "Human"
}
]
},
{
"diseaseId": 48,
"name": "Alcohol dependence",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050741",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050741",
"species": "Human"
},
{
"accession": "103780",
"database": "OMIM",
"url": "https://www.omim.org/entry/103780",
"species": "Human"
}
]
},
{
"diseaseId": 447,
"name": "Hypercholesterolemia; autosomal dominant, 3",
"description": "",
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"name": "Familial hypercholesterolemia"
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],
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{
"accession": "DOID:13810",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13810",
"species": "Human"
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{
"accession": "603776",
"database": "OMIM",
"url": "https://www.omim.org/entry/603776",
"species": "Human"
}
]
},
{
"diseaseId": 1016,
"name": "Crohn's disease",
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"name": "Crohn disease"
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{
"name": "Inflammatory bowel disease 1; IBD1"
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],
"databaseLinks": [
{
"accession": "DOID:8778",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8778",
"species": "Human"
},
{
"accession": "266600",
"database": "OMIM",
"url": "https://www.omim.org/entry/266600",
"species": "Human"
},
{
"accession": "ORPHA206",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=206",
"species": "Human"
}
]
},
{
"diseaseId": 298,
"name": "Endometrial cancer",
"description": "",
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],
"databaseLinks": [
{
"accession": "DOID:1380",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1380",
"species": "Human"
},
{
"accession": "608089",
"database": "OMIM",
"url": "https://www.omim.org/entry/608089",
"species": "Human"
}
]
},
{
"diseaseId": 81,
"name": "Aromatic L-amino acid decarboxylase deficiency",
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"databaseLinks": [
{
"accession": "608643",
"database": "OMIM",
"url": "https://www.omim.org/entry/608643",
"species": "Human"
},
{
"accession": "ORPHA35708",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35708",
"species": "Human"
}
]
},
{
"diseaseId": 1015,
"name": "Blau syndrome; BLAUS",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050678",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050678",
"species": "Human"
},
{
"accession": "186580",
"database": "OMIM",
"url": "https://www.omim.org/entry/186580",
"species": "Human"
},
{
"accession": "ORPHA90340",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90340",
"species": "Human"
}
]
},
{
"diseaseId": 954,
"name": "Williams-Beuren syndrome",
"description": "",
"synonyms": [
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"name": "Williams syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:1928",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1928",
"species": "Human"
},
{
"accession": "194050",
"database": "OMIM",
"url": "https://www.omim.org/entry/194050",
"species": "Human"
},
{
"accession": "ORPHA904",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=904",
"species": "Human"
}
]
},
{
"diseaseId": 1218,
"name": "Hereditary angioedema",
"description": "Hereditary angioedema is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. Mutations in two genes underlie the sub-classification of HAE types I and II (heterozygous mutation in the C1 inhibitor gene) and HAE type III (mutation in the coagulation factor XII (F12) gene.",
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{
"name": "HAE"
}
],
"databaseLinks": [
{
"accession": "DOID:14735",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14735",
"species": "Human"
},
{
"accession": "106100",
"database": "OMIM",
"url": "https://www.omim.org/entry/106100",
"species": "Human"
},
{
"accession": "610618",
"database": "OMIM",
"url": "https://www.omim.org/entry/610618",
"species": "Human"
}
]
},
{
"diseaseId": 800,
"name": "Pseudoxanthomatous diffuse cutaneous mastocytosis",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA280794",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=280794",
"species": "Human"
}
]
},
{
"diseaseId": 204,
"name": "Ceroid lipofuscinosis, neuronal, 13",
"description": "",
"synonyms": [
{
"name": "CLN13 disease"
},
{
"name": "Neuronal ceroid lipofuscinosis"
}
],
"databaseLinks": [
{
"accession": "DOID:14503",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14503",
"species": "Human"
},
{
"accession": "615362",
"database": "OMIM",
"url": "https://www.omim.org/entry/615362",
"species": "Human"
},
{
"accession": "ORPHA352709",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=352709",
"species": "Human"
}
]
},
{
"diseaseId": 1021,
"name": "Complete hydatidiform mole",
"description": "",
"synonyms": [
{
"name": "Hydatidiform mole, recurrent, 1; HYDM1"
}
],
"databaseLinks": [
{
"accession": "231090",
"database": "OMIM",
"url": "https://www.omim.org/entry/231090",
"species": "Human"
},
{
"accession": "ORPHA254688",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=254688",
"species": "Human"
}
]
},
{
"diseaseId": 1165,
"name": "Lone Atrial Fibrillation",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1077,
"name": "Pneumonia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:552",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_552",
"species": "Human"
}
]
},
{
"diseaseId": 456,
"name": "Hyperinsulinism due to HNF4A deficiency",
"description": "",
"synonyms": [
{
"name": "Hyperinsulinism"
}
],
"databaseLinks": [
{
"accession": "DOID:2018",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2018",
"species": "Human"
},
{
"accession": "ORPHA263455",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=263455",
"species": "Human"
}
]
},
{
"diseaseId": 796,
"name": "Renal pseudohypoaldosteronism type 1",
"description": "",
"synonyms": [
{
"name": "Pseudohypoaldosteronism, type 1, autosomal dominant; PHA1A"
}
],
"databaseLinks": [
{
"accession": "177735",
"database": "OMIM",
"url": "https://www.omim.org/entry/177735",
"species": "Human"
},
{
"accession": "ORPHA171871",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=171871",
"species": "Human"
}
]
},
{
"diseaseId": 1281,
"name": "Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements; NEDNEH",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "618497",
"database": "OMIM",
"url": "https://www.omim.org/entry/618497",
"species": "Human"
}
]
},
{
"diseaseId": 1247,
"name": "polyostotic sclerosing histiocytosis",
"description": "PSH is a rare, adult-onset, non-Langerhans-cell histiocytosis characterized by the abnormal proliferation of histiocytes, or tissue macrophages. It is a multisystemic disease, associated with systemic immune Th-1 oriented perturbation. More than 50% of PSH cases carry mutations in the BRAF proto-oncogene (BRAF-V600E; Haroche et al., 2017- PMID: 27234902 [in French]) .",
"synonyms": [
{
"name": "Erdheim–Chester disease"
},
{
"name": "Erdheim–Chester syndrome"
}
],
"databaseLinks": [
{
"accession": "ORPHA35687",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35687",
"species": "Human"
}
]
},
{
"diseaseId": 531,
"name": "Klinefelter syndrome",
"description": "",
"synonyms": [
{
"name": "Klinefelter's syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:1921",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1921",
"species": "Human"
},
{
"accession": "ORPHA484",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=484",
"species": "Human"
}
]
},
{
"diseaseId": 283,
"name": "Diabetes mellitus, transient neonatal, 3",
"description": "",
"synonyms": [
{
"name": "Transient neonatal diabetes mellitus"
}
],
"databaseLinks": [
{
"accession": "610582",
"database": "OMIM",
"url": "https://www.omim.org/entry/610582",
"species": "Human"
},
{
"accession": "ORPHA99886",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99886",
"species": "Human"
}
]
},
{
"diseaseId": 807,
"name": "Quebec platelet disorder",
"synonyms": [
],
"databaseLinks": [
{
"accession": "601709",
"database": "OMIM",
"url": "https://www.omim.org/entry/601709",
"species": "Human"
},
{
"accession": "ORPHA220436",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=220436",
"species": "Human"
}
]
},
{
"diseaseId": 624,
"name": "Mevalonic aciduria",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050452",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050452",
"species": "Human"
},
{
"accession": "610377",
"database": "OMIM",
"url": "https://www.omim.org/entry/610377",
"species": "Human"
},
{
"accession": "ORPHA29",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=29",
"species": "Human"
}
]
},
{
"diseaseId": 686,
"name": "Nevus, epidermal",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050532",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050532",
"species": "Human"
},
{
"accession": "162900",
"database": "OMIM",
"url": "https://www.omim.org/entry/162900",
"species": "Human"
}
]
},
{
"diseaseId": 297,
"name": "Endocrine-cerebroosteodysplasia",
"description": "",
"synonyms": [
{
"name": "Endocrine-cerebro-osteodysplasia syndrome"
}
],
"databaseLinks": [
{
"accession": "612651",
"database": "OMIM",
"url": "https://www.omim.org/entry/612651",
"species": "Human"
},
{
"accession": "ORPHA199332",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=199332",
"species": "Human"
}
]
},
{
"diseaseId": 681,
"name": "Neuropathy, hereditary sensory and autonomic, type VII; HSAN7",
"description": "",
"synonyms": [
{
"name": "Hereditary sensory and autonomic neuropathy"
},
{
"name": "Hereditary sensory and autonomic neuropathy type 7"
}
],
"databaseLinks": [
{
"accession": "DOID:11533",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11533",
"species": "Human"
},
{
"accession": "615548",
"database": "OMIM",
"url": "https://www.omim.org/entry/615548",
"species": "Human"
},
{
"accession": "ORPHA391397",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=391397",
"species": "Human"
}
]
},
{
"diseaseId": 361,
"name": "Familial isolated hypoparathyroidism due to impaired PTH secretion",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA189466",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=189466",
"species": "Human"
}
]
},
{
"diseaseId": 1173,
"name": "Hematological malignancies",
"description": "Tumours of the hematopoietic and lymphoid tissues. Examples of hematologic cancer are acute and chronic leukemias, lymphomas, multiple myeloma and myelodysplastic syndromes.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 303,
"name": "Epilepsy, idiopathic generalized, susceptibility to, 8; EIG8",
"description": "",
"synonyms": [
{
"name": "Idiopathic generalized epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:1827",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1827",
"species": "Human"
},
{
"accession": "612899",
"database": "OMIM",
"url": "https://www.omim.org/entry/612899",
"species": "Human"
}
]
},
{
"diseaseId": 1261,
"name": "Acute pancreatitis",
"description": "A sudden inflammation of the pancreas that is commonly caused by gallstones or alcohol abuse.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 974,
"name": "Muckle-Wells syndrome",
"description": "Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis.",
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{
"name": "CAPS2"
},
{
"name": "cryopyrin-associated periodic syndrome 2"
},
{
"name": "MWS"
},
{
"name": "urticaria-deafness-amyloidosis syndrome"
}
],
"databaseLinks": [
{
"accession": "191900",
"database": "OMIM",
"url": "https://www.omim.org/entry/191900",
"species": "Human"
},
{
"accession": "ORPHA575",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=575",
"species": "Human"
}
]
},
{
"diseaseId": 829,
"name": "Retinopathy of prematurity",
"description": "",
"synonyms": [
{
"name": "Exudative vitreoretinopathy 1; EVR1"
}
],
"databaseLinks": [
{
"accession": "DOID:13025",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13025",
"species": "Human"
},
{
"accession": "133780",
"database": "OMIM",
"url": "https://www.omim.org/entry/133780",
"species": "Human"
},
{
"accession": "ORPHA90050",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90050",
"species": "Human"
}
]
},
{
"diseaseId": 785,
"name": "Progressive cone dystrophy",
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],
"databaseLinks": [
{
"accession": "ORPHA1871",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1871",
"species": "Human"
}
]
},
{
"diseaseId": 643,
"name": "Multicentric osteolysis, nodulosis, and arthropathy",
"description": "",
"synonyms": [
{
"name": "Nodulosis-arthropathy-osteolysis syndrome"
}
],
"databaseLinks": [
{
"accession": "259600",
"database": "OMIM",
"url": "https://www.omim.org/entry/259600",
"species": "Human"
},
{
"accession": "ORPHA85196",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85196",
"species": "Human"
}
]
},
{
"diseaseId": 472,
"name": "Hypomagnesemia 2, renal; HOMG2",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant primary hypomagnesemia with hypocalciuria"
}
],
"databaseLinks": [
{
"accession": "154020",
"database": "OMIM",
"url": "https://www.omim.org/entry/154020",
"species": "Human"
},
{
"accession": "ORPHA34528",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=34528",
"species": "Human"
}
]
},
{
"diseaseId": 444,
"name": "Hydromyelia",
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],
"databaseLinks": [
]
},
{
"diseaseId": 537,
"name": "Leber congenital amaurosis 11; LCA11",
"description": "",
"synonyms": [
{
"name": "Amaurosis congenita of Leber"
},
{
"name": "Leber congenital amaurosis"
}
],
"databaseLinks": [
{
"accession": "DOID:14791",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14791",
"species": "Human"
},
{
"accession": "613837",
"database": "OMIM",
"url": "https://www.omim.org/entry/613837",
"species": "Human"
},
{
"accession": "ORPHA65",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=65",
"species": "Human"
}
]
},
{
"diseaseId": 233,
"name": "Colorectal cancer",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:9256",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9256",
"species": "Human"
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{
"accession": "114500",
"database": "OMIM",
"url": "https://www.omim.org/entry/114500",
"species": "Human"
}
]
},
{
"diseaseId": 1149,
"name": "Complement factor D deficiency; CFDD",
"description": "",
"synonyms": [
{
"name": "Factor D deficiency"
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{
"name": "Recurrent Neisseria infections due to factor D deficiency"
}
],
"databaseLinks": [
{
"accession": "613912",
"database": "OMIM",
"url": "https://www.omim.org/entry/613912",
"species": "Human"
},
{
"accession": "ORPHA169467",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169467",
"species": "Human"
}
]
},
{
"diseaseId": 1115,
"name": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9",
"description": "",
"synonyms": [
{
"name": "Congenital myasthenic syndrome"
},
{
"name": "Postsynaptic congenital myasthenic syndromes"
}
],
"databaseLinks": [
{
"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
},
{
"accession": "616325",
"database": "OMIM",
"url": "https://www.omim.org/entry/616325",
"species": "Human"
},
{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
},
{
"accession": "ORPHA98913",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
"species": "Human"
}
]
},
{
"diseaseId": 89,
"name": "Asthma-related traits, susceptibility to, 5",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "611064",
"database": "OMIM",
"url": "https://www.omim.org/entry/611064",
"species": "Human"
}
]
},
{
"diseaseId": 93,
"name": "Athyreosis",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA95713",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=95713",
"species": "Human"
}
]
},
{
"diseaseId": 373,
"name": "Febrile seizures, familial, 4; FEB4",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "604352",
"database": "OMIM",
"url": "https://www.omim.org/entry/604352",
"species": "Human"
}
]
},
{
"diseaseId": 252,
"name": "Congenital non-bullous ichthyosiform erythroderma",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA79394",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79394",
"species": "Human"
}
]
},
{
"diseaseId": 343,
"name": "Factor VIII deficiency",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:12134",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12134",
"species": "Human"
},
{
"accession": "134500",
"database": "OMIM",
"url": "https://www.omim.org/entry/134500",
"species": "Human"
}
]
},
{
"diseaseId": 31,
"name": "Acute encephalopathy with biphasic seizures and late reduced diffusion",
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],
"databaseLinks": [
{
"accession": "ORPHA363549",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=363549",
"species": "Human"
}
]
},
{
"diseaseId": 1199,
"name": "Activated PI3K delta syndrome",
"description": "A rare autosomal dominant, genetic disease causing primary immunodeficiency and characterised by lymphadenopathy, immunodeficiency leading to recurrent infections, and an increased risk of EBV-associated lymphoma.",
"synonyms": [
{
"name": "APDS/PASLI"
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{
"name": "Immunodeficiency 14"
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{
"name": "p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency"
}
],
"databaseLinks": [
{
"accession": "615513",
"database": "OMIM",
"url": "https://www.omim.org/entry/615513",
"species": "Human"
},
{
"accession": "ORPHA397596",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=397596",
"species": "Human"
}
]
},
{
"diseaseId": 723,
"name": "Osteoporosis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:11476",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11476",
"species": "Human"
},
{
"accession": "166710",
"database": "OMIM",
"url": "https://www.omim.org/entry/166710",
"species": "Human"
}
]
},
{
"diseaseId": 497,
"name": "Inflammatory skin and bowel disease, neonatal, 1; NISBD1",
"description": "",
"synonyms": [
{
"name": "Neonatal inflammatory skin and bowel disease"
}
],
"databaseLinks": [
{
"accession": "614328",
"database": "OMIM",
"url": "https://www.omim.org/entry/614328",
"species": "Human"
},
{
"accession": "ORPHA294023",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=294023",
"species": "Human"
}
]
},
{
"diseaseId": 1086,
"name": "Mitochondrial neurogastrointestinal encephalomyopathy",
"description": "",
"synonyms": [
{
"name": "Mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related"
}
],
"databaseLinks": [
{
"accession": "612075",
"database": "OMIM",
"url": "https://www.omim.org/entry/612075",
"species": "Human"
},
{
"accession": "ORPHA298",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=298",
"species": "Human"
}
]
},
{
"diseaseId": 884,
"name": "Spondyloepiphyseal dysplasia, Maroteaux type",
"synonyms": [
],
"databaseLinks": [
{
"accession": "184095",
"database": "OMIM",
"url": "https://www.omim.org/entry/184095",
"species": "Human"
},
{
"accession": "ORPHA263482",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=263482",
"species": "Human"
}
]
},
{
"diseaseId": 155,
"name": "Brachydactyly, type A2; BDA2",
"description": "",
"synonyms": [
{
"name": "Brachydactyly"
}
],
"databaseLinks": [
{
"accession": "DOID:0050581",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050581",
"species": "Human"
},
{
"accession": "112600",
"database": "OMIM",
"url": "https://www.omim.org/entry/112600",
"species": "Human"
},
{
"accession": "ORPHA93396",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93396",
"species": "Human"
}
]
},
{
"diseaseId": 722,
"name": "Osteoglophonic dysplasia",
"description": "",
"synonyms": [
{
"name": "Osteoglophonic dwarfism"
}
],
"databaseLinks": [
{
"accession": "166250",
"database": "OMIM",
"url": "https://www.omim.org/entry/166250",
"species": "Human"
},
{
"accession": "ORPHA2645",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2645",
"species": "Human"
}
]
},
{
"diseaseId": 953,
"name": "WHIM syndrome",
"description": "WHIM syndrome is an extremely rare congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma) (from orphanet).",
"synonyms": [
{
"name": "Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM)"
},
{
"name": "Warts-Infections-Leukopenia-Myelokatexis (WILM)"
}
],
"databaseLinks": [
{
"accession": "193670",
"database": "OMIM",
"url": "https://www.omim.org/entry/193670",
"species": "Human"
},
{
"accession": "ORPHA51636",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=51636",
"species": "Human"
}
]
},
{
"diseaseId": 609,
"name": "Mental retardation and microcephaly with pontine and cerebellar hypoplasia",
"description": "",
"synonyms": [
{
"name": "X-linked intellectual disability, Najm type"
}
],
"databaseLinks": [
{
"accession": "300749",
"database": "OMIM",
"url": "https://www.omim.org/entry/300749",
"species": "Human"
},
{
"accession": "ORPHA163937",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=163937",
"species": "Human"
}
]
},
{
"diseaseId": 416,
"name": "Hemophagocytic lymphohistiocytosis",
"description": "",
"synonyms": [
{
"name": "Hemophagocytic syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:0050120",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050120",
"species": "Human"
},
{
"accession": "603552",
"database": "OMIM",
"url": "https://www.omim.org/entry/603552",
"species": "Human"
},
{
"accession": "ORPHA158032",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158032",
"species": "Human"
}
]
},
{
"diseaseId": 1286,
"name": "Uveal melanoma",
"description": "Uveal melanoma is the most common eye cancer in adults. It is distinct from skin melanomas.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 195,
"name": "Caudal agenesis type II",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1153,
"name": "Alagille syndrome 2; ALGS2",
"description": "",
"synonyms": [
{
"name": "Alagille syndrome"
},
{
"name": "Alagille syndrome due to a NOTCH2 point mutation"
}
],
"databaseLinks": [
{
"accession": "DOID:9245",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9245",
"species": "Human"
},
{
"accession": "610205",
"database": "OMIM",
"url": "https://www.omim.org/entry/610205",
"species": "Human"
},
{
"accession": "ORPHA261629",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=261629",
"species": "Human"
}
]
},
{
"diseaseId": 1137,
"name": "Opsoclonus-myoclonus syndrome",
"description": "Opsoclonus myoclonus syndrome (OMS) is a rare pediatric brain inflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia and behavioural and sleep disorders.",
"synonyms": [
{
"name": "dancing eye syndrome"
},
{
"name": "Kinsbourne syndrome"
},
{
"name": "OMA syndrome"
},
{
"name": "paraneoplastic opsoclonus-myoclonus"
},
{
"name": "paraneoplastic opsoclonus-myoclonus-ataxia"
}
],
"databaseLinks": [
{
"accession": "ORPHA1183",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1183",
"species": "Human"
}
]
},
{
"diseaseId": 1097,
"name": "Brunner syndrome",
"description": "",
"synonyms": [
{
"name": "Monoamine oxidase A deficiency"
}
],
"databaseLinks": [
{
"accession": "300615",
"database": "OMIM",
"url": "https://www.omim.org/entry/300615",
"species": "Human"
},
{
"accession": "ORPHA3057",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3057",
"species": "Human"
}
]
},
{
"diseaseId": 199,
"name": "Cerebellar ataxia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050753",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050753",
"species": "Human"
}
]
},
{
"diseaseId": 369,
"name": "Febrile and afebrile seizures",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 441,
"name": "Human immunodeficiency virus type 1, susceptibility to",
"description": "",
"synonyms": [
{
"name": "Human immunodeficiency virus infectious disease"
}
],
"databaseLinks": [
{
"accession": "DOID:526",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_526",
"species": "Human"
},
{
"accession": "609423",
"database": "OMIM",
"url": "https://www.omim.org/entry/609423",
"species": "Human"
},
{
"accession": "ORPHA319269",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=319269",
"species": "Human"
}
]
},
{
"diseaseId": 243,
"name": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",
"description": "",
"synonyms": [
{
"name": "Congenital adrenal hyperplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:12255",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12255",
"species": "Human"
},
{
"accession": "202110",
"database": "OMIM",
"url": "https://www.omim.org/entry/202110",
"species": "Human"
},
{
"accession": "ORPHA90793",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90793",
"species": "Human"
}
]
},
{
"diseaseId": 1264,
"name": "Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)",
"description": "IMDDHH is a early onset multisystem disorder that is characterised by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Congenital heart defects and liver involvement are variably present.",
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],
"databaseLinks": [
{
"accession": "617744",
"database": "OMIM",
"url": "https://www.omim.org/entry/617744",
"species": "Human"
}
]
},
{
"diseaseId": 902,
"name": "Telangiectasia, hereditary hemorrhagic, type 2",
"description": "",
"synonyms": [
{
"name": "Hereditary hemorrhagic telangiectasia"
}
],
"databaseLinks": [
{
"accession": "DOID:1270",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1270",
"species": "Human"
},
{
"accession": "600376",
"database": "OMIM",
"url": "https://www.omim.org/entry/600376",
"species": "Human"
},
{
"accession": "ORPHA774",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=774",
"species": "Human"
}
]
},
{
"diseaseId": 1142,
"name": "Bronchiectasis with or without elevated sweat chloride 3; BESC3",
"description": "",
"synonyms": [
{
"name": "Bronchiectasis"
},
{
"name": "Idiopathic bronchiectasis"
}
],
"databaseLinks": [
{
"accession": "DOID:9563",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9563",
"species": "Human"
},
{
"accession": "613071",
"database": "OMIM",
"url": "https://www.omim.org/entry/613071",
"species": "Human"
},
{
"accession": "ORPHA60033",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=60033",
"species": "Human"
}
]
},
{
"diseaseId": 1047,
"name": "Lymphoma, Hodgkin, Classic; CHL",
"description": "",
"synonyms": [
{
"name": "Hodgkin lymphoma"
},
{
"name": "Hodgkin's lymphoma"
}
],
"databaseLinks": [
{
"accession": "DOID:8567",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8567",
"species": "Human"
},
{
"accession": "236000",
"database": "OMIM",
"url": "https://www.omim.org/entry/236000",
"species": "Human"
}
]
},
{
"diseaseId": 740,
"name": "Pendred syndrome",
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],
"databaseLinks": [
{
"accession": "ORPHA705",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=705",
"species": "Human"
}
]
},
{
"diseaseId": 1178,
"name": "Combined immunodeficiency",
"description": "Combined immunodeficiency evolving into predominant CD4+ lymphopenia",
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],
"databaseLinks": [
]
},
{
"diseaseId": 892,
"name": "Stroke, ischemic",
"description": "",
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{
"name": "Cerebral infarction"
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{
"name": "Cerebrovascular accident"
}
],
"databaseLinks": [
{
"accession": "DOID:3455",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3455",
"species": "Human"
},
{
"accession": "601367",
"database": "OMIM",
"url": "https://www.omim.org/entry/601367",
"species": "Human"
}
]
},
{
"diseaseId": 856,
"name": "Short QT syndrome-3; SQT3",
"description": "",
"synonyms": [
{
"name": "Familial short QT syndrome"
}
],
"databaseLinks": [
{
"accession": "609622",
"database": "OMIM",
"url": "https://www.omim.org/entry/609622",
"species": "Human"
},
{
"accession": "ORPHA51083",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=51083",
"species": "Human"
}
]
},
{
"diseaseId": 1083,
"name": "Maturity-onset diabetes of the young, type 2; MODY2",
"description": "",
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{
"name": "Maturity-onset diabetes of the young"
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{
"name": "MODY"
}
],
"databaseLinks": [
{
"accession": "DOID:0050524",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050524",
"species": "Human"
},
{
"accession": "125851",
"database": "OMIM",
"url": "https://www.omim.org/entry/125851",
"species": "Human"
},
{
"accession": "606391",
"database": "OMIM",
"url": "https://www.omim.org/entry/606391",
"species": "Human"
},
{
"accession": "ORPHA552",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=552",
"species": "Human"
}
]
},
{
"diseaseId": 230,
"name": "Coffin-Siris syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1925",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1925",
"species": "Human"
},
{
"accession": "135900",
"database": "OMIM",
"url": "https://www.omim.org/entry/135900",
"species": "Human"
},
{
"accession": "ORPHA1465",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1465",
"species": "Human"
}
]
},
{
"diseaseId": 503,
"name": "Insulin-like growth factor I, resistance to",
"description": "",
"synonyms": [
{
"name": "Growth delay due to insulin-like growth factor I resistance"
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],
"databaseLinks": [
{
"accession": "270450",
"database": "OMIM",
"url": "https://www.omim.org/entry/270450",
"species": "Human"
},
{
"accession": "ORPHA73273",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=73273",
"species": "Human"
}
]
},
{
"diseaseId": 1154,
"name": "Hajdu-Cheney syndrome; HJCYS",
"description": "",
"synonyms": [
{
"name": "Acroosteolysis dominant type"
}
],
"databaseLinks": [
{
"accession": "DOID:2736",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2736",
"species": "Human"
},
{
"accession": "102500",
"database": "OMIM",
"url": "https://www.omim.org/entry/102500",
"species": "Human"
},
{
"accession": "ORPHA955",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=955",
"species": "Human"
}
]
},
{
"diseaseId": 78,
"name": "Apert syndrome",
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],
"databaseLinks": [
{
"accession": "101200",
"database": "OMIM",
"url": "https://www.omim.org/entry/101200",
"species": "Human"
},
{
"accession": "ORPHA87",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=87",
"species": "Human"
}
]
},
{
"diseaseId": 994,
"name": "Semantic dementia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA100069",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100069",
"species": "Human"
}
]
},
{
"diseaseId": 987,
"name": "Melanocytic nevus syndrome, congenital; CMNS",
"description": "",
"synonyms": [
{
"name": "Congenital melanocytic nevus"
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{
"name": "Large congenital melanocytic nevus"
}
],
"databaseLinks": [
{
"accession": "DOID:3157",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3157",
"species": "Human"
},
{
"accession": "137550",
"database": "OMIM",
"url": "https://www.omim.org/entry/137550",
"species": "Human"
},
{
"accession": "ORPHA626",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=626",
"species": "Human"
}
]
},
{
"diseaseId": 1099,
"name": "Trypsinogen deficiency",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "614044",
"database": "OMIM",
"url": "https://www.omim.org/entry/614044",
"species": "Human"
}
]
},
{
"diseaseId": 852,
"name": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative",
"description": "",
"synonyms": [
{
"name": "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:0060008",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060008",
"species": "Human"
},
{
"accession": "600802",
"database": "OMIM",
"url": "https://www.omim.org/entry/600802",
"species": "Human"
},
{
"accession": "ORPHA35078",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35078",
"species": "Human"
}
]
},
{
"diseaseId": 250,
"name": "Congenital mesoblastic nephroma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4773",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4773",
"species": "Human"
},
{
"accession": "ORPHA2665",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2665",
"species": "Human"
}
]
},
{
"diseaseId": 611,
"name": "Mental retardation, autosomal dominant 16; MRD16",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant non-syndromic intellectual disability"
}
],
"databaseLinks": [
{
"accession": "DOID:0060307",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060307",
"species": "Human"
},
{
"accession": "614609",
"database": "OMIM",
"url": "https://www.omim.org/entry/614609",
"species": "Human"
}
]
},
{
"diseaseId": 621,
"name": "Metastatic melanoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4358",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4358",
"species": "Human"
}
]
},
{
"diseaseId": 865,
"name": "Skin/hair/eye pigmentation, variation in, 2; SHEP2",
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],
"databaseLinks": [
{
"accession": "266300",
"database": "OMIM",
"url": "https://www.omim.org/entry/266300",
"species": "Human"
}
]
},
{
"diseaseId": 1246,
"name": "Bullous pemphigoid",
"description": "Bullous pemphigoid is a potentially fatal, autoimmune subepidermal blistering skin disease.",
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],
"databaseLinks": [
{
"accession": "ORPHA703",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=703",
"species": "Human"
}
]
},
{
"diseaseId": 962,
"name": "Ocular albinism, type I; OA1",
"description": "",
"synonyms": [
{
"name": "Ocular albinism"
},
{
"name": "X-linked recessive ocular albinism"
}
],
"databaseLinks": [
{
"accession": "DOID:0050633",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050633",
"species": "Human"
},
{
"accession": "300500",
"database": "OMIM",
"url": "https://www.omim.org/entry/300500",
"species": "Human"
},
{
"accession": "ORPHA54",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=54",
"species": "Human"
}
]
},
{
"diseaseId": 106,
"name": "Autoimmune lymphoproliferative syndrome, type III; ALPS3",
"description": "",
"synonyms": [
{
"name": "Autoimmune lymphoproliferative syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:6688",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6688",
"species": "Human"
},
{
"accession": "615559",
"database": "OMIM",
"url": "https://www.omim.org/entry/615559",
"species": "Human"
},
{
"accession": "ORPHA3261",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3261",
"species": "Human"
}
]
},
{
"diseaseId": 1200,
"name": "Alopecia areata",
"description": "A hypersensitivity reaction type II disease causing loss of head and body hair, initially causing bald spots.",
"synonyms": [
{
"name": "circumscribed alopecia"
}
],
"databaseLinks": [
{
"accession": "DOID:986",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_986",
"species": "Human"
}
]
},
{
"diseaseId": 1010,
"name": "Systemic lupus erythematosus, susceptibility to, 2; SLEB2",
"description": "",
"synonyms": [
{
"name": "Systemic lupus erythematosus"
}
],
"databaseLinks": [
{
"accession": "DOID:9074",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9074",
"species": "Human"
},
{
"accession": "605218",
"database": "OMIM",
"url": "https://www.omim.org/entry/605218",
"species": "Human"
},
{
"accession": "ORPHA536",
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"accession": "ORPHA88660",
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"accession": "611162",
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"accession": "612965",
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"accession": "ORPHA242",
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"accession": "ORPHA289539",
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"accession": "187600",
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"accession": "ORPHA1860",
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"accession": "609968",
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"accession": "ORPHA263458",
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"accession": "ORPHA36387",
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"accession": "202700",
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"accession": "ORPHA486",
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"diseaseId": 713,
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"accession": "ORPHA75382",
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"accession": "ORPHA2591",
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"accession": "ORPHA3197",
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"accession": "615962",
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"accession": "ORPHA786",
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"diseaseId": 1092,
"name": "Hyperchlorhidrosis, isolated",
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"accession": "143860",
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"url": "https://www.omim.org/entry/143860",
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"accession": "ORPHA275864",
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{
"diseaseId": 514,
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"accession": "DOID:2481",
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{
"accession": "614558",
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"url": "https://www.omim.org/entry/614558",
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{
"accession": "ORPHA1934",
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"accession": "ORPHA51083",
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"accession": "604403",
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"url": "https://www.omim.org/entry/604403",
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"accession": "ORPHA36387",
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{
"accession": "176860",
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{
"accession": "ORPHA745",
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"diseaseId": 863,
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"accession": "ORPHA324321",
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{
"accession": "204700",
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"url": "https://www.omim.org/entry/204700",
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{
"accession": "ORPHA100033",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100033",
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"accession": "616313",
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"url": "https://www.omim.org/entry/616313",
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{
"accession": "ORPHA590",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
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"accession": "ORPHA98913",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
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{
"accession": "109650",
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"url": "https://www.omim.org/entry/109650",
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"accession": "ORPHA117",
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"accession": "ORPHA231671",
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"accession": "ORPHA261330",
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"accession": "608516",
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"accession": "ORPHA90020",
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"species": "Human"
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{
"accession": "ORPHA215",
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{
"accession": "607554",
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{
"accession": "ORPHA334",
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{
"accession": "609893",
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"species": "Human"
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{
"accession": "ORPHA97927",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97927",
"species": "Human"
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"species": "Human"
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{
"accession": "253000",
"database": "OMIM",
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{
"accession": "ORPHA582",
"database": "Orphanet",
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"name": "Hypoplasminogenemia",
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"accession": "217090",
"database": "OMIM",
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"accession": "ORPHA722",
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"name": "Mental retardation, X-linked 88; MRX88",
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"name": "X-linked non-syndromic intellectual disability"
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"accession": "300852",
"database": "OMIM",
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"accession": "ORPHA777",
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"name": "Diabetes mellitus, transient neonatal, 2",
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"accession": "ORPHA99886",
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"accession": "613643",
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"accession": "162800",
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"accession": "ORPHA2686",
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"accession": "ORPHA169186",
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"name": "Coronary heart disease, susceptibility to, 6",
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{
"accession": "614466",
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"accession": "ORPHA280654",
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"accession": "ORPHA317425",
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"accession": "ORPHA680",
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"accession": "ORPHA423",
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"accession": "ORPHA329242",
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"accession": "ORPHA85169",
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"accession": "600858",
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"accession": "ORPHA155",
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"accession": "188055",
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"accession": "607596",
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"accession": "ORPHA2254",
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"accession": "613179",
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"accession": "ORPHA760",
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"accession": "ORPHA90795",
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{
"accession": "ORPHA648",
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"accession": "ORPHA1344",
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{
"accession": "244200",
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{
"accession": "ORPHA478",
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"accession": "260350",
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"url": "https://www.omim.org/entry/260350",
"species": "Human"
},
{
"accession": "ORPHA1333",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1333",
"species": "Human"
}
]
},
{
"diseaseId": 1039,
"name": "Temporal arteritis",
"description": "This is a chronic inflammatory disease of medium-large arteries. Costicosteroids are the primary treatment for GCA, however blockade of the IL-6/IL-6R pathway has proven an effective alternative to costicosteroids. The anti-IL-6Rα monoclonal antibody tocilizumab was approved for GCA by the FDA in 2017. IL-6 production is downstream of GM-CSF and does not address all of the underlying causes of inflammation in GCA, and the GM-CSF pathway itself is now an active therapeutic target for this indication.",
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"name": "Giant cell arteritis"
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],
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"species": "Human"
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{
"accession": "187360",
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"url": "https://www.omim.org/entry/187360",
"species": "Human"
},
{
"accession": "ORPHA397",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=397",
"species": "Human"
}
]
},
{
"diseaseId": 631,
"name": "Mild hyperphenylalaninemia",
"description": "",
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],
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"accession": "261600",
"database": "OMIM",
"url": "https://www.omim.org/entry/261600",
"species": "Human"
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{
"accession": "ORPHA79651",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79651",
"species": "Human"
}
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},
{
"diseaseId": 1201,
"name": "Myelodysplastic syndrome",
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"accession": "DOID:0050908",
"database": "Disease Ontology",
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},
{
"accession": "614286",
"database": "OMIM",
"url": "https://www.omim.org/entry/614286",
"species": "Human"
}
]
},
{
"diseaseId": 107,
"name": "Autoimmune lymphoproliferative syndrome with recurrent viral infections",
"description": "",
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"name": "Autoimmune lymphoproliferative syndrome"
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{
"name": "Autoimmune lymphoproliferative syndrome, type IIB; ALPS2B"
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{
"name": "Caspase 8 deficiency"
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],
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"accession": "DOID:6688",
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"species": "Human"
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{
"accession": "607271",
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"url": "https://www.omim.org/entry/607271",
"species": "Human"
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{
"accession": "ORPHA275517",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=275517",
"species": "Human"
}
]
},
{
"diseaseId": 1196,
"name": "Ankylosing spondylitis",
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"name": "Bekhterev syndrome"
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{
"name": "Marie-Strumpell disease"
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],
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"accession": "DOID:7147",
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"url": "http://purl.obolibrary.org/obo/DOID_7147",
"species": "Human"
}
]
},
{
"diseaseId": 446,
"name": "Hypercholesterolemia, familial",
"description": "",
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"accession": "DOID:13810",
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"species": "Human"
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{
"accession": "143890",
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"url": "https://www.omim.org/entry/143890",
"species": "Human"
}
]
},
{
"diseaseId": 1163,
"name": "Brugada syndrome 9; BRGDA9",
"description": "",
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"name": "Brugada syndrome"
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"accession": "DOID:0050451",
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{
"accession": "616399",
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"url": "https://www.omim.org/entry/616399",
"species": "Human"
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{
"accession": "ORPHA130",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=130",
"species": "Human"
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},
{
"diseaseId": 749,
"name": "Peters anomaly",
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"accession": "ORPHA708",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=708",
"species": "Human"
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{
"diseaseId": 86,
"name": "Asthma, susceptibility to",
"description": "",
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"accession": "DOID:2841",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2841",
"species": "Human"
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{
"accession": "600807",
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"url": "https://www.omim.org/entry/600807",
"species": "Human"
}
]
},
{
"diseaseId": 1148,
"name": "Hashimoto thyroiditis",
"description": "",
"synonyms": [
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"name": "Autoimmune thyroiditis"
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{
"name": "Hashimoto struma"
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"accession": "DOID:7188",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_7188",
"species": "Human"
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{
"accession": "140300",
"database": "OMIM",
"url": "https://www.omim.org/entry/140300",
"species": "Human"
},
{
"accession": "ORPHA855",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=855",
"species": "Human"
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]
},
{
"diseaseId": 920,
"name": "Thyroid carcinoma, familial medullary",
"description": "",
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"name": "Familial medullary thyroid carcinoma"
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"accession": "DOID:0050547",
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"url": "http://purl.obolibrary.org/obo/DOID_0050547",
"species": "Human"
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{
"accession": "155240",
"database": "OMIM",
"url": "https://www.omim.org/entry/155240",
"species": "Human"
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{
"accession": "ORPHA99361",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99361",
"species": "Human"
}
]
},
{
"diseaseId": 1058,
"name": "Candidemia",
"description": "",
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"name": "Candidiasis"
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"accession": "DOID:1508",
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"url": "http://purl.obolibrary.org/obo/DOID_1508",
"species": "Human"
}
]
},
{
"diseaseId": 363,
"name": "Familial partial lipodystrophy due to AKT2 mutations",
"description": "",
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"name": "Familial partial lipodystrophy"
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"accession": "DOID:0050440",
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"url": "http://purl.obolibrary.org/obo/DOID_0050440",
"species": "Human"
},
{
"accession": "ORPHA79085",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79085",
"species": "Human"
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},
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"diseaseId": 231,
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"accession": "614306",
"database": "OMIM",
"url": "https://www.omim.org/entry/614306",
"species": "Human"
}
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},
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"diseaseId": 66,
"name": "Increased analgesia from kappa-opioid receptor agonist, female-specific",
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"accession": "613098",
"database": "OMIM",
"url": "https://www.omim.org/entry/613098",
"species": "Human"
}
]
},
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"diseaseId": 661,
"name": "Myelomeningocele",
"description": "",
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},
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"diseaseId": 512,
"name": "Irritable bowel syndrome",
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"accession": "DOID:9778",
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"url": "http://purl.obolibrary.org/obo/DOID_9778",
"species": "Human"
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},
{
"diseaseId": 340,
"name": "Extraskeletal myxoid chondrosarcoma",
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"accession": "DOID:6496",
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"url": "http://purl.obolibrary.org/obo/DOID_6496",
"species": "Human"
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{
"accession": "612237",
"database": "OMIM",
"url": "https://www.omim.org/entry/612237",
"species": "Human"
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{
"accession": "ORPHA209916",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=209916",
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},
{
"diseaseId": 1213,
"name": "Night blindness",
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},
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"diseaseId": 873,
"name": "Spermatogenic failure 8; SPGF8",
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"name": "Male infertility with azoospermia or oligozoospermia due to single gene mutation"
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"accession": "613957",
"database": "OMIM",
"url": "https://www.omim.org/entry/613957",
"species": "Human"
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{
"accession": "ORPHA399805",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=399805",
"species": "Human"
}
]
},
{
"diseaseId": 523,
"name": "Jervell and Lange-Nielsen syndrome 1; JLNS1",
"description": "",
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"name": "Jervell and Lange-Nielsen syndrome"
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{
"name": "Jervell-Lange Nielsen syndrome"
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"accession": "DOID:2842",
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"species": "Human"
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{
"accession": "220400",
"database": "OMIM",
"url": "https://www.omim.org/entry/220400",
"species": "Human"
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{
"accession": "ORPHA90647",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90647",
"species": "Human"
}
]
},
{
"diseaseId": 356,
"name": "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form",
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"accession": "ORPHA293899",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=293899",
"species": "Human"
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},
{
"diseaseId": 458,
"name": "Hypertension, essential",
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"accession": "DOID:10825",
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"url": "http://purl.obolibrary.org/obo/DOID_10825",
"species": "Human"
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{
"accession": "145500",
"database": "OMIM",
"url": "https://www.omim.org/entry/145500",
"species": "Human"
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"diseaseId": 414,
"name": "Hemolytic anemia due to glutathione reductase deficiency",
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"accession": "ORPHA90030",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90030",
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},
{
"diseaseId": 640,
"name": "Mucolipidosis IV",
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"accession": "DOID:3343",
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"accession": "252650",
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"url": "https://www.omim.org/entry/252650",
"species": "Human"
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{
"accession": "ORPHA578",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=578",
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]
},
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"diseaseId": 1053,
"name": "Sarcoidosis, early-onset",
"description": "",
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"url": "http://purl.obolibrary.org/obo/DOID_11335",
"species": "Human"
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{
"accession": "609464",
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"url": "https://www.omim.org/entry/609464",
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"name": "Parkinson disease 8, autosomal dominant; PARK8",
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"name": "Hereditary Parkinson disease with late-onset"
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"name": "Parkinson's disease"
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"accession": "DOID:14330",
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"url": "http://purl.obolibrary.org/obo/DOID_14330",
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{
"accession": "607060",
"database": "OMIM",
"url": "https://www.omim.org/entry/607060",
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{
"accession": "ORPHA411602",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=411602",
"species": "Human"
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]
},
{
"diseaseId": 538,
"name": "Leber congenital amaurosis 16; LCA16",
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"name": "Amaurosis congenita of Leber"
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"name": "Leber congenital amaurosis"
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"accession": "DOID:14791",
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{
"accession": "614186",
"database": "OMIM",
"url": "https://www.omim.org/entry/614186",
"species": "Human"
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{
"accession": "ORPHA65",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=65",
"species": "Human"
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},
{
"diseaseId": 166,
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"accession": "DOID:0050451",
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{
"accession": "ORPHA130",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=130",
"species": "Human"
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]
},
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"diseaseId": 595,
"name": "Maturity-onset diabetes of the young, type 11; MODY11",
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"name": "Maturity-onset diabetes of the young"
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"name": "MODY"
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"accession": "DOID:0050524",
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"url": "http://purl.obolibrary.org/obo/DOID_0050524",
"species": "Human"
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{
"accession": "613375",
"database": "OMIM",
"url": "https://www.omim.org/entry/613375",
"species": "Human"
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{
"accession": "606391",
"database": "OMIM",
"url": "https://www.omim.org/entry/606391",
"species": "Human"
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{
"accession": "ORPHA552",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=552",
"species": "Human"
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]
},
{
"diseaseId": 142,
"name": "Benign Samaritan congenital myopathy",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=324581",
"species": "Human"
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]
},
{
"diseaseId": 924,
"name": "Thyroid carcinoma, follicular; FTC",
"description": "",
"synonyms": [
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"name": "Differentiated thyroid carcinoma"
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{
"name": "Follicular thyroid carcinoma"
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],
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"accession": "DOID:3962",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3962",
"species": "Human"
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{
"accession": "188470",
"database": "OMIM",
"url": "https://www.omim.org/entry/188470",
"species": "Human"
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{
"accession": "ORPHA146",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=146",
"species": "Human"
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]
},
{
"diseaseId": 872,
"name": "Spermatogenic failure 7; SPGF7",
"description": "",
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"name": "Non-syndromic male infertility due to sperm motility disorder"
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],
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"accession": "612997",
"database": "OMIM",
"url": "https://www.omim.org/entry/612997",
"species": "Human"
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{
"accession": "ORPHA276234",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=276234",
"species": "Human"
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]
},
{
"diseaseId": 410,
"name": "Hawkinsinuria",
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"accession": "140350",
"database": "OMIM",
"url": "https://www.omim.org/entry/140350",
"species": "Human"
},
{
"accession": "ORPHA2118",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2118",
"species": "Human"
}
]
},
{
"diseaseId": 1140,
"name": "Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B",
"description": "",
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"name": "Autosomal recessive pseudohypoaldosteronism type 1"
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{
"name": "Generalized pseudohypoaldosteronism type 1"
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{
"name": "Pseudohypoaldosteronism"
}
],
"databaseLinks": [
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"accession": "DOID:4479",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4479",
"species": "Human"
},
{
"accession": "264350",
"database": "OMIM",
"url": "https://www.omim.org/entry/264350",
"species": "Human"
},
{
"accession": "ORPHA171876",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=171876",
"species": "Human"
}
]
},
{
"diseaseId": 1054,
"name": "Ulcerative colitis",
"description": "",
"synonyms": [
{
"name": "Inflammatory bowel disease 1; IBD1"
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],
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"accession": "DOID:8577",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8577",
"species": "Human"
},
{
"accession": "266600",
"database": "OMIM",
"url": "https://www.omim.org/entry/266600",
"species": "Human"
},
{
"accession": "ORPHA771",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=771",
"species": "Human"
}
]
},
{
"diseaseId": 792,
"name": "Proteus syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
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"accession": "DOID:13482",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13482",
"species": "Human"
},
{
"accession": "176920",
"database": "OMIM",
"url": "https://www.omim.org/entry/176920",
"species": "Human"
},
{
"accession": "ORPHA744",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=744",
"species": "Human"
}
]
},
{
"diseaseId": 896,
"name": "Symptomatic form of hemophilia B in female carriers",
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"accession": "ORPHA177929",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=177929",
"species": "Human"
}
]
},
{
"diseaseId": 651,
"name": "Myasthenia gravis",
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"accession": "254200",
"database": "OMIM",
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"accession": "ORPHA589",
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"name": "GABA-transaminase deficiency",
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"name": "GABA aminotransferase deficiency"
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"name": "Gamma-aminobutyric acid transaminase deficiency"
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"accession": "613163",
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"accession": "ORPHA2066",
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"accession": "ORPHA45358",
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"diseaseId": 597,
"name": "Meconium ileus",
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"accession": "ORPHA314376",
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{
"accession": "116600",
"database": "OMIM",
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"accession": "ORPHA98993",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98993",
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"diseaseId": 1012,
"name": "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis",
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"diseaseId": 730,
"name": "Paramyotonia Congenita of Von Eulenburg",
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"accession": "168300",
"database": "OMIM",
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"accession": "ORPHA684",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=684",
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"diseaseId": 548,
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"accession": "ORPHA313808",
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"accession": "ORPHA1606",
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"accession": "ORPHA254892",
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"accession": "ORPHA352740",
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"accession": "300600",
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"accession": "ORPHA178333",
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"accession": "601462",
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"accession": "ORPHA98913",
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"accession": "ORPHA590",
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"accession": "ORPHA93314",
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"accession": "167870",
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"accession": "191830",
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"accession": "ORPHA1848",
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"accession": "612964",
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"accession": "ORPHA619",
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"accession": "ORPHA397787",
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"accession": "ORPHA324999",
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"accession": "ORPHA3366",
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"accession": "ORPHA39041",
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"accession": "ORPHA2635",
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"accession": "300770",
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"accession": "ORPHA264675",
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"accession": "ORPHA590",
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{
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98905",
"species": "Human"
}
]
},
{
"diseaseId": 341,
"name": "Factor V deficiency",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2216",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2216",
"species": "Human"
},
{
"accession": "227400",
"database": "OMIM",
"url": "https://www.omim.org/entry/227400",
"species": "Human"
},
{
"accession": "ORPHA326",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=326",
"species": "Human"
}
]
},
{
"diseaseId": 450,
"name": "Hyper-IgD syndrome",
"description": "",
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"name": "Hyperimmunoglobulinemia D with periodic fever"
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{
"accession": "260920",
"database": "OMIM",
"url": "https://www.omim.org/entry/260920",
"species": "Human"
},
{
"accession": "ORPHA343",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=343",
"species": "Human"
}
]
},
{
"diseaseId": 900,
"name": "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations",
"description": "",
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{
"name": "Combined immunodeficiency due to STK4 deficiency"
}
],
"databaseLinks": [
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"accession": "614868",
"database": "OMIM",
"url": "https://www.omim.org/entry/614868",
"species": "Human"
},
{
"accession": "ORPHA314689",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=314689",
"species": "Human"
}
]
},
{
"diseaseId": 405,
"name": "Graves' disease",
"description": "",
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],
"databaseLinks": [
{
"accession": "DOID:12361",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12361",
"species": "Human"
}
]
},
{
"diseaseId": 170,
"name": "Budd-Chiari syndrome",
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],
"databaseLinks": [
{
"accession": "600880",
"database": "OMIM",
"url": "https://www.omim.org/entry/600880",
"species": "Human"
},
{
"accession": "ORPHA131",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=131",
"species": "Human"
}
]
},
{
"diseaseId": 1195,
"name": "Eosinophilic esophagitis",
"description": "An esophagitis characterized by inflammation resulting from eosinophil activity in the esophagus.",
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],
"databaseLinks": [
{
"accession": "DOID:13922",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13922",
"species": "Human"
},
{
"accession": "ORPHA73247",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=73247",
"species": "Human"
}
]
},
{
"diseaseId": 762,
"name": "Polycystic kidney disease 2",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant polycystic kidney disease"
},
{
"name": "Polycystic kidney disease"
}
],
"databaseLinks": [
{
"accession": "DOID:898",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_898",
"species": "Human"
},
{
"accession": "613095",
"database": "OMIM",
"url": "https://www.omim.org/entry/613095",
"species": "Human"
},
{
"accession": "ORPHA730",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=730",
"species": "Human"
}
]
},
{
"diseaseId": 996,
"name": "Dental ankylosis",
"description": "",
"synonyms": [
{
"name": "Tooth ankylosis"
}
],
"databaseLinks": [
{
"accession": "DOID:12661",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12661",
"species": "Human"
},
{
"accession": "ORPHA1077",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1077",
"species": "Human"
}
]
},
{
"diseaseId": 712,
"name": "Oculocutaneous albinism type 2",
"description": "",
"synonyms": [
{
"name": "Oculocutaneous albinism"
}
],
"databaseLinks": [
{
"accession": "DOID:0050632",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050632",
"species": "Human"
},
{
"accession": "203200",
"database": "OMIM",
"url": "https://www.omim.org/entry/203200",
"species": "Human"
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{
"accession": "ORPHA79432",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79432",
"species": "Human"
}
]
},
{
"diseaseId": 192,
"name": "Cataract 26, multiple types; CTRCT26",
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"accession": "605749",
"database": "OMIM",
"url": "https://www.omim.org/entry/605749",
"species": "Human"
}
]
},
{
"diseaseId": 1174,
"name": "Alpha-1 antitrypsin deficiency (A1ATD)",
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],
"databaseLinks": [
{
"accession": "613490",
"database": "OMIM",
"url": "https://www.omim.org/entry/613490",
"species": "Human"
},
{
"accession": "ORPHA60",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=60",
"species": "Human"
}
]
},
{
"diseaseId": 513,
"name": "Ischemia-reperfusion injury",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 101,
"name": "Atypical chronic myeloid leukemia",
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],
"databaseLinks": [
{
"accession": "ORPHA98824",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98824",
"species": "Human"
}
]
},
{
"diseaseId": 1197,
"name": "Relapsing-remitting multiple sclerosis",
"description": "A multiple sclerosis characterized by periods of relapse followed by remission. Symptoms may vary from mild to severe, and relapses and remissions may last for days or months.",
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{
"name": "Relapsing-remitting MS"
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{
"name": "RRMS"
}
],
"databaseLinks": [
{
"accession": "DOID:2378",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2378",
"species": "Human"
}
]
},
{
"diseaseId": 1063,
"name": "Staphylococcal infection",
"description": "",
"synonyms": [
{
"name": "Staphylococcal infectious disease"
}
],
"databaseLinks": [
{
"accession": "DOID:98",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_98",
"species": "Human"
}
]
},
{
"diseaseId": 473,
"name": "Hyponatremia",
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],
"databaseLinks": [
{
"accession": "613508",
"database": "OMIM",
"url": "https://www.omim.org/entry/613508",
"species": "Human"
}
]
},
{
"diseaseId": 69,
"name": "Angelman syndrome",
"description": "",
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],
"databaseLinks": [
{
"accession": "DOID:1932",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1932",
"species": "Human"
},
{
"accession": "105830",
"database": "OMIM",
"url": "https://www.omim.org/entry/105830",
"species": "Human"
}
]
},
{
"diseaseId": 1059,
"name": "Pancolitis",
"description": "A severe form of ulcerative colitis",
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],
"databaseLinks": [
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},
{
"diseaseId": 878,
"name": "Spinocerebellar ataxia 14; SCA14",
"description": "",
"synonyms": [
{
"name": "Spinocerebellar ataxia"
}
],
"databaseLinks": [
{
"accession": "DOID:1441",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1441",
"species": "Human"
},
{
"accession": "605361",
"database": "OMIM",
"url": "https://www.omim.org/entry/605361",
"species": "Human"
},
{
"accession": "ORPHA98763",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98763",
"species": "Human"
}
]
},
{
"diseaseId": 679,
"name": "Neuropathic pain",
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],
"databaseLinks": [
]
},
{
"diseaseId": 983,
"name": "Melanoma, cutaneous malignant, susceptibility to, 1; CMM1",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "155600",
"database": "OMIM",
"url": "https://www.omim.org/entry/155600",
"species": "Human"
}
]
},
{
"diseaseId": 375,
"name": "FG syndrome 4",
"description": "",
"synonyms": [
{
"name": "FG syndrome"
},
{
"name": "Keller syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:14711",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14711",
"species": "Human"
},
{
"accession": "300422",
"database": "OMIM",
"url": "https://www.omim.org/entry/300422",
"species": "Human"
},
{
"accession": "ORPHA323",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=323",
"species": "Human"
}
]
},
{
"diseaseId": 415,
"name": "Hemolytic uremic syndrome, atypical, susceptibility to, 4",
"description": "",
"synonyms": [
{
"name": "Atypical hemolytic-uremic syndrome with B factor anomaly"
},
{
"name": "Hemolytic-uremic syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:12554",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12554",
"species": "Human"
},
{
"accession": "612924",
"database": "OMIM",
"url": "https://www.omim.org/entry/612924",
"species": "Human"
},
{
"accession": "ORPHA93578",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93578",
"species": "Human"
}
]
},
{
"diseaseId": 976,
"name": "Amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5",
"description": "",
"synonyms": [
{
"name": "Amelogenesis imperfecta"
},
{
"name": "Hypomaturation amelogenesis imperfecta"
}
],
"databaseLinks": [
{
"accession": "DOID:2187",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2187",
"species": "Human"
},
{
"accession": "615887",
"database": "OMIM",
"url": "https://www.omim.org/entry/615887",
"species": "Human"
},
{
"accession": "ORPHA100033",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100033",
"species": "Human"
}
]
},
{
"diseaseId": 729,
"name": "Papillon-Lefevre syndrome",
"description": "",
"synonyms": [
{
"name": "Papillon-Lefevre disease"
}
],
"databaseLinks": [
{
"accession": "DOID:3389",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3389",
"species": "Human"
},
{
"accession": "245000",
"database": "OMIM",
"url": "https://www.omim.org/entry/245000",
"species": "Human"
},
{
"accession": "ORPHA678",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=678",
"species": "Human"
}
]
},
{
"diseaseId": 680,
"name": "Neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A",
"description": "",
"synonyms": [
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"name": "Hereditary sensory and autonomic neuropathy"
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{
"name": "Hereditary sensory and autonomic neuropathy type 2"
}
],
"databaseLinks": [
{
"accession": "DOID:11533",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11533",
"species": "Human"
},
{
"accession": "201300",
"database": "OMIM",
"url": "https://www.omim.org/entry/201300",
"species": "Human"
},
{
"accession": "ORPHA970",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=970",
"species": "Human"
}
]
},
{
"diseaseId": 408,
"name": "Hartsfield syndrome",
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],
"databaseLinks": [
{
"accession": "615465",
"database": "OMIM",
"url": "https://www.omim.org/entry/615465",
"species": "Human"
},
{
"accession": "ORPHA2117",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2117",
"species": "Human"
}
]
},
{
"diseaseId": 1242,
"name": "Deficiency of IL-36R antagonist",
"description": "The phenotype of this extremely rare autosomal recessive genetic abnormality covers a range of pustular skin syndromes that are variants of generalized pustular psoriasis (GPP). GPP is an acute, episodic, and potentially life-threatening form of psoriasis that presents as repeated episodes of cutaneous pustulosis and plaque development over a wide area of the body.",
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"name": "DITRA"
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],
"databaseLinks": [
{
"accession": "614204",
"database": "OMIM",
"url": "https://www.omim.org/entry/614204",
"species": "Human"
},
{
"accession": "ORPHA404546",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=404546",
"species": "Human"
}
]
},
{
"diseaseId": 782,
"name": "Primary hypomagnesemia with secondary hypocalcemia",
"description": "",
"synonyms": [
{
"name": "Hypomagnesemia 1, intestinal"
}
],
"databaseLinks": [
{
"accession": "602014",
"database": "OMIM",
"url": "https://www.omim.org/entry/602014",
"species": "Human"
},
{
"accession": "ORPHA30924",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=30924",
"species": "Human"
}
]
},
{
"diseaseId": 1160,
"name": "Bradyopsia",
"description": "Bradyopsia is characterised by a prolonged electroretinal response suppression (PERRS) and stationary subnormal visual acuity and photophobia.",
"synonyms": [
{
"name": "PERRS"
},
{
"name": "prolonged electroretinal response suppression"
}
],
"databaseLinks": [
{
"accession": "608415",
"database": "OMIM",
"url": "https://www.omim.org/entry/608415",
"species": "Human"
}
]
},
{
"diseaseId": 689,
"name": "Niemann-Pick disease",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14504",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14504",
"species": "Human"
}
]
},
{
"diseaseId": 982,
"name": "Pancreatic cancer",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1793",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1793",
"species": "Human"
},
{
"accession": "260350",
"database": "OMIM",
"url": "https://www.omim.org/entry/260350",
"species": "Human"
}
]
},
{
"diseaseId": 522,
"name": "Metaphyseal chondrodysplasia, Jansen type",
"description": "",
"synonyms": [
{
"name": "Jansen's metaphyseal chondrodysplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:0080020",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0080020",
"species": "Human"
},
{
"accession": "156400",
"database": "OMIM",
"url": "https://www.omim.org/entry/156400",
"species": "Human"
},
{
"accession": "ORPHA33067",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=33067",
"species": "Human"
}
]
},
{
"diseaseId": 1079,
"name": "Hepatitis C infection",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1883",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1883",
"species": "Human"
}
]
},
{
"diseaseId": 674,
"name": "Nephronophthisis 9; NPHP9",
"description": "",
"synonyms": [
{
"name": "Nephronophthisis"
}
],
"databaseLinks": [
{
"accession": "DOID:12712",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12712",
"species": "Human"
},
{
"accession": "613824",
"database": "OMIM",
"url": "https://www.omim.org/entry/613824",
"species": "Human"
}
]
},
{
"diseaseId": 630,
"name": "Mild hemophilia B",
"description": "",
"synonyms": [
{
"name": "Hemophilia B; HEMB"
}
],
"databaseLinks": [
{
"accession": "DOID:12259",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12259",
"species": "Human"
},
{
"accession": "306900",
"database": "OMIM",
"url": "https://www.omim.org/entry/306900",
"species": "Human"
},
{
"accession": "ORPHA169799",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169799",
"species": "Human"
}
]
},
{
"diseaseId": 11,
"name": "46,XX gonadal dysgenesis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14450",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14450",
"species": "Human"
},
{
"accession": "ORPHA243",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=243",
"species": "Human"
}
]
},
{
"diseaseId": 1152,
"name": "Congenital heart defects, multiple types, 4; CHTD4",
"description": "",
"synonyms": [
{
"name": "Complete atrioventricular canal"
},
{
"name": "Partial atrioventricular canal"
}
],
"databaseLinks": [
{
"accession": "615779",
"database": "OMIM",
"url": "https://www.omim.org/entry/615779",
"species": "Human"
},
{
"accession": "ORPHA1330",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1330",
"species": "Human"
},
{
"accession": "ORPHA1329",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1329",
"species": "Human"
}
]
},
{
"diseaseId": 575,
"name": "Lymphedema, hereditary IA",
"description": "",
"synonyms": [
{
"name": "Hereditary lymphedema"
},
{
"name": "Milroy disease"
}
],
"databaseLinks": [
{
"accession": "DOID:0050580",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050580",
"species": "Human"
},
{
"accession": "153100",
"database": "OMIM",
"url": "https://www.omim.org/entry/153100",
"species": "Human"
},
{
"accession": "ORPHA79452",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79452",
"species": "Human"
}
]
},
{
"diseaseId": 821,
"name": "Retinitis pigmentosa 10; RP10",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
},
{
"accession": "180105",
"database": "OMIM",
"url": "https://www.omim.org/entry/180105",
"species": "Human"
},
{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
}
]
},
{
"diseaseId": 401,
"name": "Glycogen storage disease due to muscle phosphorylase kinase deficiency",
"description": "",
"synonyms": [
{
"name": "Glycogen storage disease IX"
}
],
"databaseLinks": [
{
"accession": "DOID:0050594",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050594",
"species": "Human"
},
{
"accession": "ORPHA715",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=715",
"species": "Human"
}
]
},
{
"diseaseId": 1141,
"name": "Liddle syndrome; LIDLS",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050477",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050477",
"species": "Human"
},
{
"accession": "177200",
"database": "OMIM",
"url": "https://www.omim.org/entry/177200",
"species": "Human"
},
{
"accession": "ORPHA526",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=526",
"species": "Human"
}
]
},
{
"diseaseId": 659,
"name": "Myeloid neoplasm associated with PDGFRB rearrangement",
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],
"databaseLinks": [
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"accession": "ORPHA168950",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=168950",
"species": "Human"
}
]
},
{
"diseaseId": 739,
"name": "Pediatric systemic lupus erythematosus",
"description": "",
"synonyms": [
{
"name": "Systemic lupus erythematosus"
}
],
"databaseLinks": [
{
"accession": "DOID:9074",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9074",
"species": "Human"
},
{
"accession": "ORPHA93552",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93552",
"species": "Human"
}
]
},
{
"diseaseId": 1094,
"name": "Polysubstance abuse, susceptibility to; PSAB",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "606581",
"database": "OMIM",
"url": "https://www.omim.org/entry/606581",
"species": "Human"
}
]
},
{
"diseaseId": 279,
"name": "Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A",
"description": "",
"synonyms": [
{
"name": "Insulin-resistance syndrome type A"
}
],
"databaseLinks": [
{
"accession": "610549",
"database": "OMIM",
"url": "https://www.omim.org/entry/610549",
"species": "Human"
},
{
"accession": "ORPHA2297",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2297",
"species": "Human"
}
]
},
{
"diseaseId": 9,
"name": "46, XY sex reversal 6; SRXY6",
"description": "",
"synonyms": [
{
"name": "46,XY complete gonadal dysgenesis"
},
{
"name": "46 XY gonadal dysgenesis"
},
{
"name": "46,XY partial gonadal dysgenesis"
}
],
"databaseLinks": [
{
"accession": "DOID:14448",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14448",
"species": "Human"
},
{
"accession": "613762",
"database": "OMIM",
"url": "https://www.omim.org/entry/613762",
"species": "Human"
},
{
"accession": "ORPHA242",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=242",
"species": "Human"
},
{
"accession": "ORPHA251510",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251510",
"species": "Human"
}
]
},
{
"diseaseId": 1110,
"name": "Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B",
"description": "",
"synonyms": [
{
"name": "Congenital myasthenic syndrome"
},
{
"name": "Postsynaptic congenital myasthenic syndromes"
}
],
"databaseLinks": [
{
"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
},
{
"accession": "616322",
"database": "OMIM",
"url": "https://www.omim.org/entry/616322",
"species": "Human"
},
{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
},
{
"accession": "ORPHA98913",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
"species": "Human"
}
]
},
{
"diseaseId": 903,
"name": "Temperature-sensitive oculocutaneous albinism type 1",
"synonyms": [
],
"databaseLinks": [
{
"accession": "606952",
"database": "OMIM",
"url": "https://www.omim.org/entry/606952",
"species": "Human"
},
{
"accession": "ORPHA352737",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=352737",
"species": "Human"
}
]
},
{
"diseaseId": 716,
"name": "Enchondromatosis, multiple, Ollier type",
"description": "",
"synonyms": [
{
"name": "Dyschondroplasia"
},
{
"name": "Enchondromatosis"
},
{
"name": "Ollier disease"
},
{
"name": "Osteochondromatosis"
}
],
"databaseLinks": [
{
"accession": "DOID:4625",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4625",
"species": "Human"
},
{
"accession": "166000",
"database": "OMIM",
"url": "https://www.omim.org/entry/166000",
"species": "Human"
},
{
"accession": "ORPHA296",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=296",
"species": "Human"
}
]
},
{
"diseaseId": 741,
"name": "Periodic fever, menstrual cycle dependent",
"synonyms": [
],
"databaseLinks": [
{
"accession": "614674",
"database": "OMIM",
"url": "https://www.omim.org/entry/614674",
"species": "Human"
}
]
},
{
"diseaseId": 897,
"name": "Systemic lupus erythematosus, susceptibility to, 12; SLEB12",
"description": "",
"synonyms": [
{
"name": "Systemic lupus erythematosus"
}
],
"databaseLinks": [
{
"accession": "DOID:9074",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9074",
"species": "Human"
},
{
"accession": "612254",
"database": "OMIM",
"url": "https://www.omim.org/entry/612254",
"species": "Human"
},
{
"accession": "ORPHA536",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=536",
"species": "Human"
}
]
},
{
"diseaseId": 543,
"name": "Lethal congenital contractural syndrome 2; LCCS2",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "607598",
"database": "OMIM",
"url": "https://www.omim.org/entry/607598",
"species": "Human"
},
{
"accession": "ORPHA137776",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=137776",
"species": "Human"
}
]
},
{
"diseaseId": 736,
"name": "Paroxysmal Extreme Pain Disorder",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "167400",
"database": "OMIM",
"url": "https://www.omim.org/entry/167400",
"species": "Human"
},
{
"accession": "ORPHA46348",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=46348",
"species": "Human"
}
]
},
{
"diseaseId": 565,
"name": "Long QT syndrome 13; LQT13",
"description": "",
"synonyms": [
{
"name": "Long QT syndrome"
},
{
"name": "Romano-Ward syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:2843",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2843",
"species": "Human"
},
{
"accession": "613485",
"database": "OMIM",
"url": "https://www.omim.org/entry/613485",
"species": "Human"
},
{
"accession": "ORPHA101016",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=101016",
"species": "Human"
}
]
},
{
"diseaseId": 566,
"name": "Long QT syndrome 3; LQT3",
"description": "",
"synonyms": [
{
"name": "Long QT syndrome"
},
{
"name": "Romano-Ward syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:2843",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2843",
"species": "Human"
},
{
"accession": "603830",
"database": "OMIM",
"url": "https://www.omim.org/entry/603830",
"species": "Human"
},
{
"accession": "ORPHA101016",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=101016",
"species": "Human"
}
]
},
{
"diseaseId": 1130,
"name": "Corneal dystrophy, Fleck",
"description": "A rare, autosomal dominant disease which causes the formation of numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. A few patients present with photophobia, but the majority are asymptomatic.",
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{
"name": "CFD"
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{
"name": "corneal dystrophy, Francois-Neetens speckled ro flecked"
}
],
"databaseLinks": [
{
"accession": "121850",
"database": "OMIM",
"url": "https://www.omim.org/entry/121850",
"species": "Human"
}
]
},
{
"diseaseId": 457,
"name": "Hyperkalemic Periodic Paralysis; HYPP",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14451",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14451",
"species": "Human"
},
{
"accession": "170500",
"database": "OMIM",
"url": "https://www.omim.org/entry/170500",
"species": "Human"
},
{
"accession": "ORPHA682",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=682",
"species": "Human"
}
]
},
{
"diseaseId": 592,
"name": "Maternal hyperphenylalaninemia",
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],
"databaseLinks": [
{
"accession": "261600",
"database": "OMIM",
"url": "https://www.omim.org/entry/261600",
"species": "Human"
},
{
"accession": "ORPHA2209",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2209",
"species": "Human"
}
]
},
{
"diseaseId": 281,
"name": "Diabetes mellitus, permanent neonatal; PNDM",
"description": "",
"synonyms": [
{
"name": "DEND syndrome"
},
{
"name": "Developmental delay-epilepsy-neonatal diabetes syndrome"
},
{
"name": "Permanent neonatal diabetes mellitus"
}
],
"databaseLinks": [
{
"accession": "606176",
"database": "OMIM",
"url": "https://www.omim.org/entry/606176",
"species": "Human"
},
{
"accession": "ORPHA99885",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99885",
"species": "Human"
},
{
"accession": "ORPHA79134",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79134",
"species": "Human"
}
]
},
{
"diseaseId": 687,
"name": "Nicolaides-Baraitser syndrome",
"description": "",
"synonyms": [
{
"name": "Intellectual disability - sparse hair - brachydactyly"
}
],
"databaseLinks": [
{
"accession": "601358",
"database": "OMIM",
"url": "https://www.omim.org/entry/601358",
"species": "Human"
},
{
"accession": "ORPHA3051",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3051",
"species": "Human"
}
]
},
{
"diseaseId": 1041,
"name": "Spinal muscular atrophy, type I; SMA1",
"description": "",
"synonyms": [
{
"name": "Proximal spinal muscular atrophy type 1"
},
{
"name": "Spinal muscular atrophy"
},
{
"name": "Werdnig-Hoffmann disease"
}
],
"databaseLinks": [
{
"accession": "DOID:12377",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12377",
"species": "Human"
},
{
"accession": "253300",
"database": "OMIM",
"url": "https://www.omim.org/entry/253300",
"species": "Human"
},
{
"accession": "ORPHA83330",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83330",
"species": "Human"
}
]
},
{
"diseaseId": 553,
"name": "Ligneous conjunctivitis",
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],
"databaseLinks": [
{
"accession": "217090",
"database": "OMIM",
"url": "https://www.omim.org/entry/217090",
"species": "Human"
},
{
"accession": "ORPHA97231",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=97231",
"species": "Human"
}
]
},
{
"diseaseId": 302,
"name": "Epilepsy",
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],
"databaseLinks": [
]
},
{
"diseaseId": 288,
"name": "Porokeratosis 3, disseminated superficial actinic type; POROK3",
"description": "",
"synonyms": [
{
"name": "Disseminated superficial actinic porokeratosis"
}
],
"databaseLinks": [
{
"accession": "175900",
"database": "OMIM",
"url": "https://www.omim.org/entry/175900",
"species": "Human"
},
{
"accession": "ORPHA79152",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79152",
"species": "Human"
}
]
},
{
"diseaseId": 21,
"name": "Achondroplasia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4480",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4480",
"species": "Human"
},
{
"accession": "100800",
"database": "OMIM",
"url": "https://www.omim.org/entry/100800",
"species": "Human"
},
{
"accession": "ORPHA15",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=15",
"species": "Human"
}
]
},
{
"diseaseId": 622,
"name": "Gastrointestinal neuroendocrine tumor",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4148",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4148",
"species": "Human"
}
]
},
{
"diseaseId": 927,
"name": "Tibial muscular dystrophy, tardive",
"synonyms": [
],
"databaseLinks": [
{
"accession": "600334",
"database": "OMIM",
"url": "https://www.omim.org/entry/600334",
"species": "Human"
},
{
"accession": "ORPHA609",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=609",
"species": "Human"
}
]
},
{
"diseaseId": 1027,
"name": "Gout",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:13189",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13189",
"species": "Human"
}
]
},
{
"diseaseId": 774,
"name": "Precursor T-cell acute lymphoblastic leukemia",
"description": "",
"synonyms": [
{
"name": "Acute lymphocytic leukemia"
},
{
"name": "Leukemia, acute lymphoblastic; ALL"
},
{
"name": "Leukemia, T-cell acute lymphoblastic, susceptibility to"
}
],
"databaseLinks": [
{
"accession": "DOID:9952",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9952",
"species": "Human"
},
{
"accession": "613065",
"database": "OMIM",
"url": "https://www.omim.org/entry/613065",
"species": "Human"
},
{
"accession": "ORPHA99861",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99861",
"species": "Human"
}
]
},
{
"diseaseId": 398,
"name": "Glycogen storage disease II; GSD2",
"description": "",
"synonyms": [
{
"name": "Glycogen storage disease due to acid maltase deficiency"
},
{
"name": "Glycogen storage disease due to acid maltase deficiency, adult onset"
},
{
"name": "Glycogen storage disease due to acid maltase deficiency, infantile onset"
},
{
"name": "Glycogen storage disease due to acid maltase deficiency, juvenile onset"
},
{
"name": "Pompe disease"
}
],
"databaseLinks": [
{
"accession": "DOID:2752",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2752",
"species": "Human"
},
{
"accession": "232300",
"database": "OMIM",
"url": "https://www.omim.org/entry/232300",
"species": "Human"
},
{
"accession": "ORPHA308604",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=308604",
"species": "Human"
},
{
"accession": "ORPHA365",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=365",
"species": "Human"
},
{
"accession": "ORPHA308552",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=308552",
"species": "Human"
},
{
"accession": "ORPHA308573",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=308573",
"species": "Human"
}
]
},
{
"diseaseId": 635,
"name": "Minimally differentiated acute myeloblastic leukemia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA98832",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98832",
"species": "Human"
}
]
},
{
"diseaseId": 388,
"name": "Generalized epilepsy with febrile seizures plus, type 1; GEFSP1",
"description": "",
"synonyms": [
{
"name": "Generalized epilepsy with febrile seizures-plus"
}
],
"databaseLinks": [
{
"accession": "DOID:0060170",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060170",
"species": "Human"
},
{
"accession": "604233",
"database": "OMIM",
"url": "https://www.omim.org/entry/604233",
"species": "Human"
},
{
"accession": "ORPHA36387",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36387",
"species": "Human"
}
]
},
{
"diseaseId": 165,
"name": "Bronchiectasis with or without elevated sweat chloride 1, BESC1",
"description": "",
"synonyms": [
{
"name": "Bronchiectasis"
},
{
"name": "Idiopathic bronchiectasis"
}
],
"databaseLinks": [
{
"accession": "DOID:9563",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9563",
"species": "Human"
},
{
"accession": "211400",
"database": "OMIM",
"url": "https://www.omim.org/entry/211400",
"species": "Human"
},
{
"accession": "ORPHA60033",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=60033",
"species": "Human"
}
]
},
{
"diseaseId": 1233,
"name": "Multicentric Castleman disease",
"description": "MCD is an aggressive form of Castleman disease (a benign lymphoproliferative disorder) that mainly results from human herpesvirus 8 (HHV8) infection. MCD affects multiple sets of lymph nodes and other tissues throughout the body. Symptoms include fever, diffuse lymphadenopathy, hepatosplenomegaly, involvement of the respiratory system and increased C-reactive protein.",
"synonyms": [
{
"name": "Multicentric giant lymph node hyperplasia"
}
],
"databaseLinks": [
{
"accession": "148000",
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{
"accession": "ORPHA93686",
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{
"diseaseId": 56,
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"name": "Alzheimer's disease"
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"accession": "DOID:10652",
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{
"accession": "104300",
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"diseaseId": 151,
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"accession": "607514",
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"diseaseId": 820,
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"accession": "ORPHA209932",
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"diseaseId": 1267,
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"accession": "615751",
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"diseaseId": 992,
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"diseaseId": 620,
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"accession": "613073",
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"accession": "ORPHA1040",
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"diseaseId": 894,
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"accession": "DOID:9007",
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{
"accession": "272120",
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"diseaseId": 245,
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"accession": "604498",
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{
"accession": "ORPHA3319",
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"diseaseId": 205,
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{
"accession": "603956",
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"diseaseId": 67,
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"name": "Andersen cardiodysrhythmic periodic paralysis"
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"name": "Andersen's syndrome"
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"name": "Andersen syndrome"
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{
"name": "Cardiodysrhythmic potassium-sensitive periodic paralysis"
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"accession": "DOID:0050434",
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{
"accession": "170390",
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"accession": "ORPHA37553",
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"diseaseId": 1020,
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"diseaseId": 325,
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"name": "Early infantile epileptic encephalopathy"
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"name": "Infantile epileptic encephalopathy"
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"accession": "DOID:2481",
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"accession": "615871",
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"accession": "ORPHA1934",
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"diseaseId": 895,
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"diseaseId": 673,
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"accession": "300539",
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"accession": "ORPHA83449",
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"diseaseId": 1060,
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"accession": "DOID:1024",
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"accession": "246300",
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"accession": "607834",
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"diseaseId": 1017,
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"name": "NLRP12-associated hereditary periodic fever syndrome"
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"accession": "611762",
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"accession": "ORPHA247868",
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"diseaseId": 783,
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"name": "Premature ovarian failure"
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"accession": "DOID:5426",
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"accession": "ORPHA619",
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"diseaseId": 484,
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"diseaseId": 334,
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"name": "Primary familial polycythemia"
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"accession": "133100",
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"accession": "ORPHA90042",
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]
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"diseaseId": 558,
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"name": "Lissencephaly due to TUBA1A mutation"
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"accession": "611603",
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"accession": "ORPHA171680",
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"diseaseId": 144,
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"accession": "606854",
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"accession": "ORPHA101070",
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"diseaseId": 1071,
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"accession": "DOID:4029",
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]
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"diseaseId": 540,
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"name": "LEOPARD syndrome"
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"accession": "DOID:14291",
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"accession": "611554",
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"accession": "ORPHA500",
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]
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"diseaseId": 168,
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"name": "Brugada syndrome"
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"accession": "DOID:0050451",
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"accession": "611875",
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"accession": "ORPHA130",
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]
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"diseaseId": 1224,
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"name": "chronic granulocytic leukemia"
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"name": "CML"
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"name": "myeloid leukemia, chronic"
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"accession": "DOID:8552",
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"accession": "608232",
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]
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"diseaseId": 471,
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"name": "Hypokalemic periodic paralysis"
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"accession": "DOID:14452",
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{
"accession": "613345",
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{
"accession": "ORPHA681",
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]
},
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"diseaseId": 1051,
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"accession": "616115",
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]
},
{
"diseaseId": 464,
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"name": "Kallmann syndrome"
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"name": "Normosmic congenital hypogonadotropic hypogonadism"
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"accession": "DOID:3614",
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{
"accession": "614840",
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{
"accession": "ORPHA432",
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{
"accession": "ORPHA478",
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]
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{
"diseaseId": 1109,
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"name": "Congenital myasthenic syndrome"
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"name": "Postsynaptic congenital myasthenic syndromes"
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],
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"accession": "DOID:3635",
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"species": "Human"
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{
"accession": "608930",
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"species": "Human"
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{
"accession": "ORPHA98913",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
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{
"accession": "ORPHA590",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
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]
},
{
"diseaseId": 167,
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"name": "Brugada syndrome"
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"accession": "DOID:0050451",
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{
"accession": "601144",
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"species": "Human"
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{
"accession": "ORPHA130",
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]
},
{
"diseaseId": 290,
"name": "Dravet syndrome",
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"name": "Epileptic encephalopathy, early infantile, 6; EIEE6"
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{
"name": "Severe myoclonic epilepsy of infancy; SMEI"
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],
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"accession": "DOID:0060171",
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"species": "Human"
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{
"accession": "607208",
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"species": "Human"
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{
"accession": "ORPHA33069",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=33069",
"species": "Human"
}
]
},
{
"diseaseId": 300,
"name": "Enhanced S-cone syndrome; ESCS",
"description": "",
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{
"name": "Goldmann-Favre syndrome"
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],
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{
"accession": "268100",
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"url": "https://www.omim.org/entry/268100",
"species": "Human"
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{
"accession": "ORPHA53540",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=53540",
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]
},
{
"diseaseId": 662,
"name": "Myeloproliferative disorder, chronic, with eosinophilia",
"description": "",
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"name": "Unclassified chronic myeloproliferative disease"
}
],
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{
"accession": "131440",
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"url": "https://www.omim.org/entry/131440",
"species": "Human"
},
{
"accession": "ORPHA86830",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=86830",
"species": "Human"
}
]
},
{
"diseaseId": 284,
"name": "Diarrhea 6; DIAR6",
"description": "",
"synonyms": [
{
"name": "Chronic diarrhea due to guanylate cyclase 2C overactivity"
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],
"databaseLinks": [
{
"accession": "614616",
"database": "OMIM",
"url": "https://www.omim.org/entry/614616",
"species": "Human"
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{
"accession": "ORPHA314373",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=314373",
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]
},
{
"diseaseId": 1254,
"name": "Diffuse large B-cell lymphoma",
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{
"name": "DLBCL"
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{
"name": "DLBL"
}
],
"databaseLinks": [
{
"accession": "DOID:0050745",
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"url": "http://purl.obolibrary.org/obo/DOID_0050745",
"species": "Human"
}
]
},
{
"diseaseId": 342,
"name": "Factor VII deficiency",
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"databaseLinks": [
{
"accession": "DOID:2215",
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"url": "http://purl.obolibrary.org/obo/DOID_2215",
"species": "Human"
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{
"accession": "227500",
"database": "OMIM",
"url": "https://www.omim.org/entry/227500",
"species": "Human"
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{
"accession": "ORPHA327",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=327",
"species": "Human"
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]
},
{
"diseaseId": 1133,
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"databaseLinks": [
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"accession": "DOID:1993",
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"species": "Human"
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]
},
{
"diseaseId": 1271,
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"name": "CMT2A2B"
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],
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{
"accession": "DOID:0111557",
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"species": "Human"
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{
"accession": "617087",
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"url": "https://www.omim.org/entry/617087",
"species": "Human"
},
{
"accession": "ORPHA99947",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99947",
"species": "Human"
}
]
},
{
"diseaseId": 1035,
"name": "Addison disease",
"description": "",
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"name": "Hypoadrenocorticism, familial"
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],
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"accession": "240200",
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"url": "https://www.omim.org/entry/240200",
"species": "Human"
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{
"accession": "ORPHA85138",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85138",
"species": "Human"
}
]
},
{
"diseaseId": 367,
"name": "Familial thrombocytosis",
"description": "A rare chronic myeloproliferative neoplasm (MPN) causing overproduction of platelets.",
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{
"name": "essential thrombocythaemia"
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{
"name": "hemorrhagic thrombocythemia"
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{
"name": "hereditary thrombocythemia"
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{
"name": "primary thrombocytosis"
}
],
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"accession": "DOID:2224",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2224",
"species": "Human"
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{
"accession": "ORPHA71493",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71493",
"species": "Human"
}
]
},
{
"diseaseId": 1073,
"name": "Legionnaire disease, susceptibility to",
"description": "",
"synonyms": [
{
"name": "Legionnaires' disease"
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],
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"accession": "DOID:10457",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10457",
"species": "Human"
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{
"accession": "608556",
"database": "OMIM",
"url": "https://www.omim.org/entry/608556",
"species": "Human"
}
]
},
{
"diseaseId": 588,
"name": "Malignant hyperthermia, susceptibility to, 5",
"description": "",
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"name": "Malignant hyperthermia"
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],
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"accession": "DOID:8545",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8545",
"species": "Human"
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{
"accession": "601887",
"database": "OMIM",
"url": "https://www.omim.org/entry/601887",
"species": "Human"
},
{
"accession": "ORPHA423",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=423",
"species": "Human"
}
]
},
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"diseaseId": 1019,
"name": "Testicular cancer",
"description": "",
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],
"databaseLinks": [
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"accession": "DOID:2998",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2998",
"species": "Human"
}
]
},
{
"diseaseId": 41,
"name": "Adrenal hypoplasia, congenital; AHC",
"description": "",
"synonyms": [
{
"name": "Addison's disease"
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{
"name": "Adrenal hypoplasia, cytomegalic type"
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{
"name": "Cytomegalic congenital adrenal hypoplasia"
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{
"name": "hypoadrenalism"
},
{
"name": "primary/chronic adrenal insufficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:13774",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13774",
"species": "Human"
},
{
"accession": "202155",
"database": "OMIM",
"url": "https://www.omim.org/entry/202155",
"species": "Human"
},
{
"accession": "300200",
"database": "OMIM",
"url": "https://www.omim.org/entry/300200",
"species": "Human"
},
{
"accession": "ORPHA95702",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=95702",
"species": "Human"
}
]
},
{
"diseaseId": 439,
"name": "Hirschsprung disease, susceptibility to, 1; HSCR1",
"description": "",
"synonyms": [
{
"name": "Hirschsprung disease"
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],
"databaseLinks": [
{
"accession": "142623",
"database": "OMIM",
"url": "https://www.omim.org/entry/142623",
"species": "Human"
},
{
"accession": "ORPHA388",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=388",
"species": "Human"
}
]
},
{
"diseaseId": 206,
"name": "Cervical dystonia",
"description": "",
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{
"name": "Autosomal dominant cervical dystonia"
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],
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"accession": "126453",
"database": "OMIM",
"url": "https://www.omim.org/entry/126453",
"species": "Human"
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{
"accession": "ORPHA93962",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93962",
"species": "Human"
}
]
},
{
"diseaseId": 46,
"name": "Macular degeneration, age-related, 12; ARMD12",
"description": "",
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"name": "Age-related macular degeneration"
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"accession": "DOID:10871",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10871",
"species": "Human"
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{
"accession": "613784",
"database": "OMIM",
"url": "https://www.omim.org/entry/613784",
"species": "Human"
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{
"accession": "ORPHA279",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=279",
"species": "Human"
}
]
},
{
"diseaseId": 586,
"name": "Male infertility with normal virilization due to meiosis defect",
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"databaseLinks": [
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"accession": "ORPHA217034",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=217034",
"species": "Human"
}
]
},
{
"diseaseId": 572,
"name": "Giant cell glioblastoma",
"description": "",
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{
"name": "Glioma susceptibility 1; GLM1"
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],
"databaseLinks": [
{
"accession": "DOID:3074",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3074",
"species": "Human"
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{
"accession": "137800",
"database": "OMIM",
"url": "https://www.omim.org/entry/137800",
"species": "Human"
},
{
"accession": "ORPHA251579",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251579",
"species": "Human"
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]
},
{
"diseaseId": 53,
"name": "ALK-positive large B-cell lymphoma",
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"databaseLinks": [
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"accession": "ORPHA364043",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=364043",
"species": "Human"
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]
},
{
"diseaseId": 32,
"name": "Acute myeloblastic leukemia with maturation",
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"databaseLinks": [
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"accession": "ORPHA98834",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98834",
"species": "Human"
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]
},
{
"diseaseId": 336,
"name": "Esophageal cancer",
"description": "",
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],
"databaseLinks": [
{
"accession": "DOID:5041",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5041",
"species": "Human"
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{
"accession": "133239",
"database": "OMIM",
"url": "https://www.omim.org/entry/133239",
"species": "Human"
}
]
},
{
"diseaseId": 275,
"name": "Dedifferentiated liposarcoma",
"description": "",
"synonyms": [
{
"name": "Liposarcoma"
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"databaseLinks": [
{
"accession": "DOID:3382",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3382",
"species": "Human"
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{
"accession": "ORPHA99970",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99970",
"species": "Human"
}
]
},
{
"diseaseId": 247,
"name": "Spinocerebellar ataxia, autosomal recessive 13; SCAR13",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"
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],
"databaseLinks": [
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"accession": "614831",
"database": "OMIM",
"url": "https://www.omim.org/entry/614831",
"species": "Human"
},
{
"accession": "ORPHA324262",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=324262",
"species": "Human"
}
]
},
{
"diseaseId": 260,
"name": "Cowden syndrome 6; CWS6",
"description": "",
"synonyms": [
{
"name": "Cowden disease"
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{
"name": "Cowden syndrome"
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],
"databaseLinks": [
{
"accession": "DOID:6457",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_6457",
"species": "Human"
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{
"accession": "615109",
"database": "OMIM",
"url": "https://www.omim.org/entry/615109",
"species": "Human"
},
{
"accession": "ORPHA201",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=201",
"species": "Human"
}
]
},
{
"diseaseId": 423,
"name": "Angioedema, hereditary, type III; HAE3",
"description": "",
"synonyms": [
{
"name": "Hereditary angioedema"
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{
"name": "Hereditary angioedema type 3"
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],
"databaseLinks": [
{
"accession": "DOID:14735",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14735",
"species": "Human"
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{
"accession": "610618",
"database": "OMIM",
"url": "https://www.omim.org/entry/610618",
"species": "Human"
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{
"accession": "ORPHA100054",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=100054",
"species": "Human"
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]
},
{
"diseaseId": 136,
"name": "Benign familial infantile epilepsy",
"description": "",
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{
"name": "Benign familial infantile convulsions"
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{
"name": "Benign familial infantile seizures"
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{
"accession": "DOID:0060169",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060169",
"species": "Human"
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{
"accession": "ORPHA306",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=306",
"species": "Human"
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]
},
{
"diseaseId": 1240,
"name": "Pyoderma gangrenosum",
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"databaseLinks": [
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"accession": "DOID:8553",
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"url": "http://purl.obolibrary.org/obo/DOID_8553",
"species": "Human"
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{
"accession": "ORPHA48104",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=48104",
"species": "Human"
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]
},
{
"diseaseId": 1182,
"name": "leukocyte adhesion deficiency type 1",
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"databaseLinks": [
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"accession": "116920",
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"species": "Human"
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]
},
{
"diseaseId": 411,
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},
{
"diseaseId": 869,
"name": "Snowflake vitreoretinal degeneration; SVD",
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"databaseLinks": [
{
"accession": "193230",
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"url": "https://www.omim.org/entry/193230",
"species": "Human"
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{
"accession": "ORPHA91496",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=91496",
"species": "Human"
}
]
},
{
"diseaseId": 1033,
"name": "Vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1",
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"name": "Vitiligo-associated autoimmune disease"
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"accession": "606579",
"database": "OMIM",
"url": "https://www.omim.org/entry/606579",
"species": "Human"
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{
"accession": "ORPHA247871",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=247871",
"species": "Human"
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]
},
{
"diseaseId": 425,
"name": "Vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2",
"description": "",
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"name": "Hereditary combined deficiency of vitamin K-dependent clotting factors"
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"accession": "607473",
"database": "OMIM",
"url": "https://www.omim.org/entry/607473",
"species": "Human"
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{
"accession": "ORPHA98434",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98434",
"species": "Human"
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]
},
{
"diseaseId": 672,
"name": "Nephrogenic diabetes insipidus",
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"databaseLinks": [
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"accession": "DOID:12387",
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"url": "http://purl.obolibrary.org/obo/DOID_12387",
"species": "Human"
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{
"accession": "304800",
"database": "OMIM",
"url": "https://www.omim.org/entry/304800",
"species": "Human"
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{
"accession": "ORPHA223",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=223",
"species": "Human"
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]
},
{
"diseaseId": 825,
"name": "Retinitis pigmentosa 45; RP45",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
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"databaseLinks": [
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"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
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{
"accession": "613767",
"database": "OMIM",
"url": "https://www.omim.org/entry/613767",
"species": "Human"
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{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
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]
},
{
"diseaseId": 1040,
"name": "Congenital toxoplasmosis",
"description": "",
"synonyms": [
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"databaseLinks": [
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"accession": "DOID:13336",
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"url": "http://purl.obolibrary.org/obo/DOID_13336",
"species": "Human"
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{
"accession": "ORPHA858",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=858",
"species": "Human"
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]
},
{
"diseaseId": 316,
"name": "Epilepsy, nocturnal frontal lobe, 1; ENFL1",
"description": "",
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"name": "Autosomal dominant nocturnal frontal lobe epilepsy"
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],
"databaseLinks": [
{
"accession": "600513",
"database": "OMIM",
"url": "https://www.omim.org/entry/600513",
"species": "Human"
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{
"accession": "ORPHA98784",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98784",
"species": "Human"
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]
},
{
"diseaseId": 731,
"name": "Parastremmatic dwarfism",
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"databaseLinks": [
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"accession": "168400",
"database": "OMIM",
"url": "https://www.omim.org/entry/168400",
"species": "Human"
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{
"accession": "ORPHA2646",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2646",
"species": "Human"
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]
},
{
"diseaseId": 403,
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"databaseLinks": [
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"accession": "261740",
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"species": "Human"
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]
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{
"diseaseId": 1282,
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"name": "EIEE69; Developmental and Epileptic Encephalopathy"
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"databaseLinks": [
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"accession": "618285",
"database": "OMIM",
"url": "https://www.omim.org/entry/618285",
"species": "Human"
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]
},
{
"diseaseId": 256,
"name": "Coronary heart disease, susceptibility to, 5",
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"name": "Coronary heart disease"
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"accession": "DOID:3393",
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"url": "http://purl.obolibrary.org/obo/DOID_3393",
"species": "Human"
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{
"accession": "608901",
"database": "OMIM",
"url": "https://www.omim.org/entry/608901",
"species": "Human"
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]
},
{
"diseaseId": 654,
"name": "Mycobacterium tuberculosis, susceptibility to",
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"databaseLinks": [
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"accession": "DOID:399",
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"species": "Human"
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{
"accession": "607948",
"database": "OMIM",
"url": "https://www.omim.org/entry/607948",
"species": "Human"
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]
},
{
"diseaseId": 332,
"name": "Episodic pain syndrome, familial, 3; FEPS3",
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"name": "Familial episodic pain syndrome"
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{
"name": "Familial episodic pain syndrome with predominantly lower limb involvement"
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],
"databaseLinks": [
{
"accession": "615552",
"database": "OMIM",
"url": "https://www.omim.org/entry/615552",
"species": "Human"
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{
"accession": "ORPHA391384",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=391384",
"species": "Human"
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{
"accession": "ORPHA391392",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=391392",
"species": "Human"
}
]
},
{
"diseaseId": 628,
"name": "Migraine, familial hemiplegic, 3; FHM3",
"description": "",
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"name": "Familial hemiplegic migraine"
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{
"name": "Familial or sporadic hemiplegic migraine"
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],
"databaseLinks": [
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"accession": "DOID:0060178",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060178",
"species": "Human"
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{
"accession": "609634",
"database": "OMIM",
"url": "https://www.omim.org/entry/609634",
"species": "Human"
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{
"accession": "ORPHA569",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=569",
"species": "Human"
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]
},
{
"diseaseId": 33,
"name": "Acute myeloblastic leukemia without maturation",
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"databaseLinks": [
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"accession": "ORPHA98833",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98833",
"species": "Human"
}
]
},
{
"diseaseId": 885,
"name": "Spondylometaepiphyseal dysplasia, short limb-hand type",
"description": "",
"synonyms": [
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"name": "Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification"
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],
"databaseLinks": [
{
"accession": "271665",
"database": "OMIM",
"url": "https://www.omim.org/entry/271665",
"species": "Human"
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{
"accession": "ORPHA93358",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93358",
"species": "Human"
}
]
},
{
"diseaseId": 422,
"name": "Hepatocellular carcinoma",
"description": "",
"synonyms": [
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"databaseLinks": [
{
"accession": "DOID:684",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_684",
"species": "Human"
},
{
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"diseaseId": 660,
"name": "Myeloma, multiple",
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{
"accession": "254500",
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"diseaseId": 910,
"name": "Thrombocythemia 2; THCYT2",
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"name": "Essential thrombocythemia"
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"name": "Essential thrombocytosis"
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"accession": "601977",
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"accession": "ORPHA3318",
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"diseaseId": 437,
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"accession": "142623",
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"species": "Human"
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{
"accession": "ORPHA388",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=388",
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"diseaseId": 236,
"name": "Vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1",
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"accession": "277450",
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"species": "Human"
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{
"accession": "ORPHA98434",
"database": "Orphanet",
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"diseaseId": 941,
"name": "Usher syndrome, type IIC; USH2C",
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"name": "Usher syndrome"
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"name": "Usher syndrome type 2"
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"accession": "DOID:0050439",
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"species": "Human"
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{
"accession": "605472",
"database": "OMIM",
"url": "https://www.omim.org/entry/605472",
"species": "Human"
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{
"accession": "ORPHA231178",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=231178",
"species": "Human"
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"diseaseId": 957,
"name": "Winchester syndrome",
"description": "",
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"accession": "277950",
"database": "OMIM",
"url": "https://www.omim.org/entry/277950",
"species": "Human"
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{
"accession": "ORPHA3460",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3460",
"species": "Human"
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"diseaseId": 1065,
"name": "Coronary restenosis",
"description": "",
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"accession": "DOID:4247",
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"url": "http://purl.obolibrary.org/obo/DOID_4247",
"species": "Human"
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"diseaseId": 949,
"name": "Wegener granulomatosis",
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"name": "Wegener's granulomatosis"
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"accession": "DOID:12132",
"database": "Disease Ontology",
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"species": "Human"
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{
"accession": "608710",
"database": "OMIM",
"url": "https://www.omim.org/entry/608710",
"species": "Human"
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{
"accession": "ORPHA900",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=900",
"species": "Human"
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]
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{
"diseaseId": 197,
"name": "Central core disease of muscle",
"description": "",
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"name": "Central core disease"
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{
"name": "Central core myopathy"
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{
"name": "Moderate multiminicore disease with hand involvement"
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"accession": "DOID:3529",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3529",
"species": "Human"
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{
"accession": "117000",
"database": "OMIM",
"url": "https://www.omim.org/entry/117000",
"species": "Human"
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{
"accession": "ORPHA597",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=597",
"species": "Human"
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{
"accession": "ORPHA178145",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=178145",
"species": "Human"
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"diseaseId": 135,
"name": "Rolandic epilepsy",
"description": "",
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"name": "Benign familial epilepsy of childhood with rolandic spikes"
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"accession": "245570",
"database": "OMIM",
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"species": "Human"
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{
"accession": "ORPHA1945",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1945",
"species": "Human"
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"diseaseId": 999,
"name": "Atrial fibrillation, familial, 12; ATFB12",
"description": "",
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"name": "Familial atrial fibrillation"
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"accession": "DOID:0050650",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050650",
"species": "Human"
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{
"accession": "614050",
"database": "OMIM",
"url": "https://www.omim.org/entry/614050",
"species": "Human"
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{
"accession": "ORPHA334",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=334",
"species": "Human"
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]
},
{
"diseaseId": 493,
"name": "Nephronophthisis 2; NPHP2",
"description": "",
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"name": "Nephronophthisis"
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"accession": "DOID:12712",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12712",
"species": "Human"
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{
"accession": "602088",
"database": "OMIM",
"url": "https://www.omim.org/entry/602088",
"species": "Human"
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]
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"diseaseId": 1064,
"name": "Urinary tract infection",
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"name": "Acute cystitis"
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"databaseLinks": [
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"accession": "DOID:13148",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13148",
"species": "Human"
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},
{
"diseaseId": 707,
"name": "Obesity, hyperphagia, and developmental delay; OBHD",
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"accession": "613886",
"database": "OMIM",
"url": "https://www.omim.org/entry/613886",
"species": "Human"
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]
},
{
"diseaseId": 454,
"name": "Hyperinsulinemic hypoglycemia, familial, 2; HHF2",
"description": "",
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"name": "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
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{
"name": "Hyperinsulinemic hypoglycemia"
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{
"name": "Persistent hyperinsulinemic hypoglycemia of infancy"
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"accession": "DOID:13317",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_13317",
"species": "Human"
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{
"accession": "601820",
"database": "OMIM",
"url": "https://www.omim.org/entry/601820",
"species": "Human"
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{
"accession": "ORPHA276603",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=276603",
"species": "Human"
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"diseaseId": 759,
"name": "Platelet-activating factor acetylhydrolase deficiency",
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"databaseLinks": [
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"accession": "614278",
"database": "OMIM",
"url": "https://www.omim.org/entry/614278",
"species": "Human"
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"diseaseId": 879,
"name": "Spinocerebellar ataxia 19; SCA19",
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"name": "Spinocerebellar ataxia 22; SCA22"
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{
"name": "Spinocerebellar ataxia type 19/22"
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"accession": "607346",
"database": "OMIM",
"url": "https://www.omim.org/entry/607346",
"species": "Human"
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{
"accession": "ORPHA98772",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98772",
"species": "Human"
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]
},
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"diseaseId": 482,
"name": "Ichthyosis, congenital, autosomal recessive 4A; ARCI4A",
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"name": "Lamellar ichthyosis"
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"accession": "601277",
"database": "OMIM",
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{
"accession": "ORPHA313",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=313",
"species": "Human"
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},
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"diseaseId": 1193,
"name": "Allergic conjunctivitis",
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"databaseLinks": [
{
"accession": "DOID:11204",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11204",
"species": "Human"
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},
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"diseaseId": 227,
"name": "Cocoon syndrome",
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"accession": "613630",
"database": "OMIM",
"url": "https://www.omim.org/entry/613630",
"species": "Human"
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]
},
{
"diseaseId": 500,
"name": "Insensitivity to pain, congenital, with anhidrosis; CIPA",
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"name": "Hereditary sensory and autonomic neuropathy"
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{
"name": "Hereditary sensory and autonomic neuropathy type 4"
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"databaseLinks": [
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"accession": "DOID:11533",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11533",
"species": "Human"
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{
"accession": "256800",
"database": "OMIM",
"url": "https://www.omim.org/entry/256800",
"species": "Human"
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{
"accession": "ORPHA642",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=642",
"species": "Human"
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]
},
{
"diseaseId": 1204,
"name": "Multiple myeloma",
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{
"name": "plasma cell myeloma"
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"accession": "DOID:9538",
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"species": "Human"
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{
"accession": "254500",
"database": "OMIM",
"url": "https://www.omim.org/entry/254500",
"species": "Human"
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]
},
{
"diseaseId": 311,
"name": "Epilepsy, idiopathic generalized, susceptibility to, 11; EIG11",
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"synonyms": [
{
"name": "Idiopathic generalized epilepsy"
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"accession": "DOID:1827",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1827",
"species": "Human"
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{
"accession": "607628",
"database": "OMIM",
"url": "https://www.omim.org/entry/607628",
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},
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"diseaseId": 73,
"name": "Antiphospholipid syndrome",
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"accession": "DOID:2988",
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{
"accession": "107320",
"database": "OMIM",
"url": "https://www.omim.org/entry/107320",
"species": "Human"
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{
"accession": "ORPHA80",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=80",
"species": "Human"
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]
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"diseaseId": 1169,
"name": "Syndromic X-linked mental retardation due to JARID1C mutation",
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"accession": "300534",
"database": "OMIM",
"url": "https://www.omim.org/entry/300534",
"species": "Human"
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{
"accession": "ORPHA85279",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85279",
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"diseaseId": 1171,
"name": "STING-associated vasculopathy with onset in infancy",
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"name": "SAVI"
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"name": "STING-associated vasculopathy, infantile-onset"
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]
},
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"diseaseId": 1138,
"name": "Squamous cell carcinoma, head and neck",
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"name": "HNSCC"
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"accession": "275355",
"database": "OMIM",
"url": "https://www.omim.org/entry/275355",
"species": "Human"
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{
"accession": "ORPHA67037",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=67037",
"species": "Human"
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]
},
{
"diseaseId": 1085,
"name": "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A",
"description": "",
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"name": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
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],
"databaseLinks": [
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"accession": "612075",
"database": "OMIM",
"url": "https://www.omim.org/entry/612075",
"species": "Human"
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{
"accession": "ORPHA255235",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=255235",
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"diseaseId": 875,
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"diseaseId": 1236,
"name": "Kawasaki disease",
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"name": "infantile polyarteritis"
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"name": "mucocutaneous lymph node syndrome"
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"accession": "611775",
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"url": "https://www.omim.org/entry/611775",
"species": "Human"
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]
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"diseaseId": 239,
"name": "Cone-rod dystrophy 6; CORD6",
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"name": "Cone rod dystrophy"
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"databaseLinks": [
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"accession": "DOID:0050572",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050572",
"species": "Human"
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{
"accession": "601777",
"database": "OMIM",
"url": "https://www.omim.org/entry/601777",
"species": "Human"
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{
"accession": "ORPHA1872",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1872",
"species": "Human"
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]
},
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"diseaseId": 121,
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"name": "Autosomal recessive non-syndromic intellectual disability"
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],
"databaseLinks": [
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"accession": "611092",
"database": "OMIM",
"url": "https://www.omim.org/entry/611092",
"species": "Human"
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{
"accession": "ORPHA88616",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=88616",
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},
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"diseaseId": 1255,
"name": "Acne vulgaris",
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"name": "adult acne"
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"databaseLinks": [
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"accession": "DOID:6543",
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"url": "http://purl.obolibrary.org/obo/DOID_6543",
"species": "Human"
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{
"accession": "604324",
"database": "OMIM",
"url": "https://www.omim.org/entry/604324",
"species": "Human"
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},
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"diseaseId": 420,
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"accession": "ORPHA177926",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=177926",
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"diseaseId": 845,
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"diseaseId": 755,
"name": "Piebaldism",
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"name": "Piebald trait"
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"accession": "DOID:3263",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3263",
"species": "Human"
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{
"accession": "172800",
"database": "OMIM",
"url": "https://www.omim.org/entry/172800",
"species": "Human"
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{
"accession": "ORPHA2884",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2884",
"species": "Human"
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"diseaseId": 1031,
"name": "Celiac disease",
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"databaseLinks": [
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"accession": "DOID:10608",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10608",
"species": "Human"
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]
},
{
"diseaseId": 1184,
"name": "Asthma",
"description": "A bronchial disease characterized by chronic inflammation and narrowing of the airways; caused by a combination of environmental and genetic factors.",
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"databaseLinks": [
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"accession": "DOID:2841",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2841",
"species": "Human"
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{
"accession": "600807",
"database": "OMIM",
"url": "https://www.omim.org/entry/600807",
"species": "Human"
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]
},
{
"diseaseId": 196,
"name": "Central areolar choroidal dystrophy",
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"databaseLinks": [
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"accession": "DOID:9822",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9822",
"species": "Human"
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{
"accession": "ORPHA75377",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=75377",
"species": "Human"
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]
},
{
"diseaseId": 291,
"name": "Dystonia 3, torsion, X-linked; DYT3",
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"name": "X-linked dystonia-parkinsonism"
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],
"databaseLinks": [
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"accession": "314250",
"database": "OMIM",
"url": "https://www.omim.org/entry/314250",
"species": "Human"
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{
"accession": "ORPHA53351",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=53351",
"species": "Human"
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]
},
{
"diseaseId": 1069,
"name": "Endotoxin hyporesponsiveness",
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"databaseLinks": [
{
"accession": "603030",
"database": "OMIM",
"url": "https://www.omim.org/entry/603030",
"species": "Human"
}
]
},
{
"diseaseId": 1129,
"name": "Familial amyloid cardiomyopathy",
"description": "Familial amyloid cardiomyopathy (FAP) is a degenerative disease caused by the formation of transthyretin (TTR) amyloidogenic fibrils in the heart.",
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{
"name": "Transthyretin amyloid cardiopathy"
},
{
"name": "Transthyretin amyloidosis"
},
{
"name": "Transthyretin-related familial amyloid cardiomyopathy"
},
{
"name": "TTR-related cardiac amyloidosis"
}
],
"databaseLinks": [
{
"accession": "DOID:0050638",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050638",
"species": "Human"
},
{
"accession": "105210",
"database": "OMIM",
"url": "https://www.omim.org/entry/105210",
"species": "Human"
},
{
"accession": "ORPHA85451",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85451",
"species": "Human"
}
]
},
{
"diseaseId": 859,
"name": "Short-rib thoracic dysplasia 6 with or without polydactyly",
"description": "",
"synonyms": [
{
"name": "Majewski syndrome"
},
{
"name": "Short rib-polydactyly syndrome, Majewski type"
}
],
"databaseLinks": [
{
"accession": "DOID:0050550",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050550",
"species": "Human"
},
{
"accession": "263520",
"database": "OMIM",
"url": "https://www.omim.org/entry/263520",
"species": "Human"
},
{
"accession": "ORPHA93269",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93269",
"species": "Human"
}
]
},
{
"diseaseId": 842,
"name": "Seckel syndrome 1",
"description": "",
"synonyms": [
{
"name": "Seckel syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:0050569",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050569",
"species": "Human"
},
{
"accession": "210600",
"database": "OMIM",
"url": "https://www.omim.org/entry/210600",
"species": "Human"
},
{
"accession": "ORPHA808",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=808",
"species": "Human"
}
]
},
{
"diseaseId": 767,
"name": "Popliteal pterygium syndrome 2, lethal type",
"description": "",
"synonyms": [
{
"name": "Bartsocas-Papas syndrome"
},
{
"name": "Popliteal pterygium syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:0060055",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060055",
"species": "Human"
},
{
"accession": "263650",
"database": "OMIM",
"url": "https://www.omim.org/entry/263650",
"species": "Human"
},
{
"accession": "ORPHA1234",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1234",
"species": "Human"
}
]
},
{
"diseaseId": 61,
"name": "Amyotrophic lateral sclerosis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:332",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_332",
"species": "Human"
},
{
"accession": "ORPHA803",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=803",
"species": "Human"
}
]
},
{
"diseaseId": 1043,
"name": "Spinal muscular atrophy, type II; SMA2",
"description": "",
"synonyms": [
{
"name": "Proximal spinal muscular atrophy type 2"
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{
"name": "Spinal muscular atrophy"
}
],
"databaseLinks": [
{
"accession": "DOID:12377",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12377",
"species": "Human"
},
{
"accession": "253550",
"database": "OMIM",
"url": "https://www.omim.org/entry/253550",
"species": "Human"
},
{
"accession": "ORPHA83418",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83418",
"species": "Human"
}
]
},
{
"diseaseId": 244,
"name": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency",
"description": "",
"synonyms": [
{
"name": "Congenital adrenal hyperplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:12255",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12255",
"species": "Human"
},
{
"accession": "201810",
"database": "OMIM",
"url": "https://www.omim.org/entry/201810",
"species": "Human"
},
{
"accession": "ORPHA90791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90791",
"species": "Human"
}
]
},
{
"diseaseId": 602,
"name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2",
"description": "",
"synonyms": [
{
"name": "Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus"
}
],
"databaseLinks": [
{
"accession": "615937",
"database": "OMIM",
"url": "https://www.omim.org/entry/615937",
"species": "Human"
},
{
"accession": "ORPHA83473",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83473",
"species": "Human"
}
]
},
{
"diseaseId": 1192,
"name": "Psoriatic arthritis",
"description": "Co-morbid symptoms similar to arthritis experienced by patients with psoriasis.",
"synonyms": [
{
"name": "arthritis psoriatica"
},
{
"name": "arthropathic psoriasis"
}
],
"databaseLinks": [
{
"accession": "DOID:9008",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9008",
"species": "Human"
}
]
},
{
"diseaseId": 1088,
"name": "Weaver syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14731",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14731",
"species": "Human"
},
{
"accession": "277590",
"database": "OMIM",
"url": "https://www.omim.org/entry/277590",
"species": "Human"
},
{
"accession": "ORPHA3447",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3447",
"species": "Human"
}
]
},
{
"diseaseId": 1124,
"name": "Glucose/galactose malabsorption; GGM",
"description": "",
"synonyms": [
{
"name": "Glucose-galactose malabsorption"
}
],
"databaseLinks": [
{
"accession": "606824",
"database": "OMIM",
"url": "https://www.omim.org/entry/606824",
"species": "Human"
},
{
"accession": "ORPHA35710",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35710",
"species": "Human"
}
]
},
{
"diseaseId": 691,
"name": "Night blindness, congenital stationary, type 1B; CSNB1B",
"description": "",
"synonyms": [
{
"name": "Congenital stationary night blindness"
}
],
"databaseLinks": [
{
"accession": "DOID:0050534",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050534",
"species": "Human"
},
{
"accession": "257270",
"database": "OMIM",
"url": "https://www.omim.org/entry/257270",
"species": "Human"
},
{
"accession": "ORPHA215",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=215",
"species": "Human"
}
]
},
{
"diseaseId": 468,
"name": "Hypogonadotropic hypogonadism 8 with or without anosmia; HH8",
"description": "",
"synonyms": [
{
"name": "Kallmann syndrome"
},
{
"name": "Normosmic congenital hypogonadotropic hypogonadism"
}
],
"databaseLinks": [
{
"accession": "DOID:3614",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3614",
"species": "Human"
},
{
"accession": "614837",
"database": "OMIM",
"url": "https://www.omim.org/entry/614837",
"species": "Human"
},
{
"accession": "ORPHA478",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=478",
"species": "Human"
},
{
"accession": "ORPHA432",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=432",
"species": "Human"
}
]
},
{
"diseaseId": 721,
"name": "Osteogenic sarcoma",
"description": "",
"synonyms": [
{
"name": "Osteosarcoma"
}
],
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{
"accession": "DOID:3347",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3347",
"species": "Human"
},
{
"accession": "259500",
"database": "OMIM",
"url": "https://www.omim.org/entry/259500",
"species": "Human"
},
{
"accession": "ORPHA668",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=668",
"species": "Human"
}
]
},
{
"diseaseId": 1243,
"name": "Deficiency of IL-1 receptor antagonist",
"description": "DIRA is a very rare autosomal recessive auto-inflammatory condition caused by homozygous mutation in the IL1RN gene that results in IL-1RA deficiency. It presents neonatally or in infancy with severe skin (erythema, cutaneous pustulosis, plaque formation) and bone inflammation that cause intense, chronic pain. DIRA is responsive to IL-1 blocking therapies such as anakinra, rilonacept, and canakinumab. See Aksentijevich et al. (2009) PMID: 19494218 and Reddy et al. (2009) PMID: 19494219 for case studies and reports of the identification of the genetic mutations(s) that cause DIRA.",
"synonyms": [
{
"name": "DIRA"
},
{
"name": "Interleukin-1 receptor antagonist deficiency"
},
{
"name": "OMPP"
},
{
"name": "sterile multifocal osteomyelitis with periostitis and pustulosis"
}
],
"databaseLinks": [
{
"accession": "612852",
"database": "OMIM",
"url": "https://www.omim.org/entry/612852",
"species": "Human"
},
{
"accession": "ORPHA210115",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=210115",
"species": "Human"
}
]
},
{
"diseaseId": 1100,
"name": "Hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "612348",
"database": "OMIM",
"url": "https://www.omim.org/entry/612348",
"species": "Human"
}
]
},
{
"diseaseId": 705,
"name": "Obesity due to melanocortin 4 receptor deficiency",
"description": "",
"synonyms": [
{
"name": "Obesity"
}
],
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{
"accession": "DOID:9970",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9970",
"species": "Human"
},
{
"accession": "601665",
"database": "OMIM",
"url": "https://www.omim.org/entry/601665",
"species": "Human"
},
{
"accession": "ORPHA71529",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71529",
"species": "Human"
}
]
},
{
"diseaseId": 104,
"name": "Autism",
"description": "",
"synonyms": [
{
"name": "Autism spectrum disorder"
}
],
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{
"accession": "DOID:0060041",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060041",
"species": "Human"
},
{
"accession": "209850",
"database": "OMIM",
"url": "https://www.omim.org/entry/209850",
"species": "Human"
},
{
"accession": "ORPHA106",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=106",
"species": "Human"
}
]
},
{
"diseaseId": 1270,
"name": "Ectodermal dysplasia-syndactyly syndrome",
"description": "A rare autosomal recessive disorder that is characterised by sparse to absent scalp hair, eyebrows, and eyelashes, cutaneous syndactyly and teeth abnormalities.",
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],
"databaseLinks": [
{
"accession": "613573",
"database": "OMIM",
"url": "https://www.omim.org/entry/613573",
"species": "Human"
},
{
"accession": "ORPHA247820",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=247820",
"species": "Human"
}
]
},
{
"diseaseId": 1032,
"name": "Diabetes mellitus, insulin-dependent; IDDM",
"description": "",
"synonyms": [
{
"name": "Type 1 diabetes mellitus"
}
],
"databaseLinks": [
{
"accession": "DOID:9744",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9744",
"species": "Human"
},
{
"accession": "222100",
"database": "OMIM",
"url": "https://www.omim.org/entry/222100",
"species": "Human"
}
]
},
{
"diseaseId": 960,
"name": "Xanthinuria type I",
"synonyms": [
],
"databaseLinks": [
{
"accession": "278300",
"database": "OMIM",
"url": "https://www.omim.org/entry/278300",
"species": "Human"
},
{
"accession": "ORPHA93601",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93601",
"species": "Human"
}
]
},
{
"diseaseId": 171,
"name": "Bullous diffuse cutaneous mastocytosis",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA280785",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=280785",
"species": "Human"
}
]
},
{
"diseaseId": 397,
"name": "Glucocorticoid sensitivity",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 604,
"name": "Melanoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1909",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1909",
"species": "Human"
}
]
},
{
"diseaseId": 427,
"name": "Hyperekplexia, hereditary 1; HKPX1",
"description": "",
"synonyms": [
{
"name": "Hereditary hyperekplexia"
}
],
"databaseLinks": [
{
"accession": "149400",
"database": "OMIM",
"url": "https://www.omim.org/entry/149400",
"species": "Human"
},
{
"accession": "ORPHA3197",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3197",
"species": "Human"
}
]
},
{
"diseaseId": 786,
"name": "Progressive familial heart block, type IA; PFHB1A",
"description": "",
"synonyms": [
{
"name": "Familial progressive cardiac conduction defect"
}
],
"databaseLinks": [
{
"accession": "113900",
"database": "OMIM",
"url": "https://www.omim.org/entry/113900",
"species": "Human"
},
{
"accession": "ORPHA871",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=871",
"species": "Human"
}
]
},
{
"diseaseId": 347,
"name": "Familial cerebral saccular aneurysm",
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],
"databaseLinks": [
{
"accession": "ORPHA231160",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=231160",
"species": "Human"
}
]
},
{
"diseaseId": 179,
"name": "Cardiac hypertrophy",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 636,
"name": "Moderately severe hemophilia B",
"description": "",
"synonyms": [
{
"name": "Hemophilia B; HEMB"
}
],
"databaseLinks": [
{
"accession": "DOID:12259",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12259",
"species": "Human"
},
{
"accession": "306900",
"database": "OMIM",
"url": "https://www.omim.org/entry/306900",
"species": "Human"
},
{
"accession": "ORPHA169796",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169796",
"species": "Human"
}
]
},
{
"diseaseId": 1228,
"name": "Follicular lymphoma",
"description": "An indolent non-Hodgkin lymphoma.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050873",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050873",
"species": "Human"
}
]
},
{
"diseaseId": 321,
"name": "Epileptic encephalopathy, early infantile, 11; EIEE11",
"description": "",
"synonyms": [
{
"name": "Early infantile epileptic encephalopathy"
},
{
"name": "Infantile epileptic encephalopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:2481",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2481",
"species": "Human"
},
{
"accession": "613721",
"database": "OMIM",
"url": "https://www.omim.org/entry/613721",
"species": "Human"
},
{
"accession": "ORPHA1934",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1934",
"species": "Human"
}
]
},
{
"diseaseId": 105,
"name": "Autoimmune disease",
"description": "",
"synonyms": [
{
"name": "hypersensitivity reaction disease"
}
],
"databaseLinks": [
{
"accession": "DOID:0060056",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0060056",
"species": "Human"
},
{
"accession": "109100",
"database": "OMIM",
"url": "https://www.omim.org/entry/109100",
"species": "Human"
},
{
"accession": "126200",
"database": "OMIM",
"url": "https://www.omim.org/entry/126200",
"species": "Human"
},
{
"accession": "177900",
"database": "OMIM",
"url": "https://www.omim.org/entry/177900",
"species": "Human"
},
{
"accession": "222100",
"database": "OMIM",
"url": "https://www.omim.org/entry/222100",
"species": "Human"
},
{
"accession": "604302",
"database": "OMIM",
"url": "https://www.omim.org/entry/604302",
"species": "Human"
}
]
},
{
"diseaseId": 402,
"name": "Glycogen storage disease IXc",
"description": "",
"synonyms": [
{
"name": "Glycogen storage disease due to liver phosphorylase kinase deficiency"
},
{
"name": "Glycogen storage disease IX"
}
],
"databaseLinks": [
{
"accession": "DOID:0050594",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050594",
"species": "Human"
},
{
"accession": "613027",
"database": "OMIM",
"url": "https://www.omim.org/entry/613027",
"species": "Human"
},
{
"accession": "ORPHA264580",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=264580",
"species": "Human"
}
]
},
{
"diseaseId": 804,
"name": "Pulmonary hypertension, primary, 1; PPH1",
"description": "",
"synonyms": [
{
"name": "Heritable pulmonary arterial hypertension"
},
{
"name": "Idiopathic pulmonary arterial hypertension"
},
{
"name": "Primary pulmonary hypertension"
}
],
"databaseLinks": [
{
"accession": "DOID:14557",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14557",
"species": "Human"
},
{
"accession": "178600",
"database": "OMIM",
"url": "https://www.omim.org/entry/178600",
"species": "Human"
},
{
"accession": "ORPHA275777",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=275777",
"species": "Human"
},
{
"accession": "ORPHA275766",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=275766",
"species": "Human"
}
]
},
{
"diseaseId": 445,
"name": "Hyperalgesia",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 889,
"name": "Stargardt disease 1",
"synonyms": [
],
"databaseLinks": [
{
"accession": "248200",
"database": "OMIM",
"url": "https://www.omim.org/entry/248200",
"species": "Human"
},
{
"accession": "ORPHA827",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=827",
"species": "Human"
}
]
},
{
"diseaseId": 991,
"name": "Costello syndrome; CSTLO",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050469",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050469",
"species": "Human"
},
{
"accession": "218040",
"database": "OMIM",
"url": "https://www.omim.org/entry/218040",
"species": "Human"
},
{
"accession": "ORPHA3071",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3071",
"species": "Human"
}
]
},
{
"diseaseId": 776,
"name": "Pregnancy loss, recurrent, susceptibility to, 2",
"synonyms": [
],
"databaseLinks": [
{
"accession": "614390",
"database": "OMIM",
"url": "https://www.omim.org/entry/614390",
"species": "Human"
}
]
},
{
"diseaseId": 467,
"name": "Hypogonadotropic hypogonadism 7 with or without anosmia; HH7",
"description": "",
"synonyms": [
{
"name": "Idiopathic hypogonadotropic hypogonadism"
},
{
"name": "Isolated hypogonadotropic hypogonadism"
}
],
"databaseLinks": [
{
"accession": "146110",
"database": "OMIM",
"url": "https://www.omim.org/entry/146110",
"species": "Human"
},
{
"accession": "ORPHA432",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=432",
"species": "Human"
}
]
},
{
"diseaseId": 327,
"name": "Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus",
"description": "",
"synonyms": [
{
"name": "Wolcott-Rallison syndrome"
}
],
"databaseLinks": [
{
"accession": "226980",
"database": "OMIM",
"url": "https://www.omim.org/entry/226980",
"species": "Human"
},
{
"accession": "ORPHA1667",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1667",
"species": "Human"
}
]
},
{
"diseaseId": 253,
"name": "Hypothyroidism, congenital, nongoitrous, 1; CHNG1",
"description": "",
"synonyms": [
{
"name": "Congenital hypothyroidism"
},
{
"name": "Hypothyroidism due to TSH receptor mutations"
}
],
"databaseLinks": [
{
"accession": "DOID:0050328",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050328",
"species": "Human"
},
{
"accession": "275200",
"database": "OMIM",
"url": "https://www.omim.org/entry/275200",
"species": "Human"
},
{
"accession": "ORPHA90673",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90673",
"species": "Human"
}
]
},
{
"diseaseId": 692,
"name": "Night blindness, congenital stationary, type 1C; CSNB1C",
"description": "",
"synonyms": [
{
"name": "Congenital stationary night blindness"
}
],
"databaseLinks": [
{
"accession": "DOID:0050534",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050534",
"species": "Human"
},
{
"accession": "613216",
"database": "OMIM",
"url": "https://www.omim.org/entry/613216",
"species": "Human"
},
{
"accession": "ORPHA215",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=215",
"species": "Human"
}
]
},
{
"diseaseId": 581,
"name": "Macular degeneration, age-related, 14; ARMD14",
"description": "",
"synonyms": [
{
"name": "Age-related macular degeneration"
}
],
"databaseLinks": [
{
"accession": "DOID:10871",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10871",
"species": "Human"
},
{
"accession": "615489",
"database": "OMIM",
"url": "https://www.omim.org/entry/615489",
"species": "Human"
},
{
"accession": "ORPHA279",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=279",
"species": "Human"
}
]
},
{
"diseaseId": 14,
"name": "46,XY disorder of sex development due to isolated 17, 20 lyase deficiency",
"description": "",
"synonyms": [
{
"name": "46 XY gonadal dysgenesis"
}
],
"databaseLinks": [
{
"accession": "DOID:14448",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14448",
"species": "Human"
},
{
"accession": "614279",
"database": "OMIM",
"url": "https://www.omim.org/entry/614279",
"species": "Human"
},
{
"accession": "ORPHA90796",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=90796",
"species": "Human"
}
]
},
{
"diseaseId": 1177,
"name": "OTULIN-related autoinflammatory syndrome (ORAS)",
"description": "A potentially fatal inherited autoimmune disease. Premature newborns display severe idiopathic inflammatory symptoms, developing repeated episodes of systemic inflammation (diarrhea, elevated serum C-reactive protein) without evidence of infection. The affected babies develop painful swollen joints, elevated immunoglobulin levels and serum autoantibodies.",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 1121,
"name": "Congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "610805",
"database": "OMIM",
"url": "https://www.omim.org/entry/610805",
"species": "Human"
}
]
},
{
"diseaseId": 109,
"name": "CANDLE syndrome",
"description": "",
"synonyms": [
{
"name": "Autoinflammation, lipodystrophy, and dermatosis syndrome"
},
{
"name": "Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome"
}
],
"databaseLinks": [
{
"accession": "256040",
"database": "OMIM",
"url": "https://www.omim.org/entry/256040",
"species": "Human"
},
{
"accession": "ORPHA325004",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=325004",
"species": "Human"
}
]
},
{
"diseaseId": 133,
"name": "Benign Adult Familial Myoclonic Epilepsy",
"synonyms": [
],
"databaseLinks": [
{
"accession": "601068",
"database": "OMIM",
"url": "https://www.omim.org/entry/601068",
"species": "Human"
}
]
},
{
"diseaseId": 724,
"name": "Ovarian cancer",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2394",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2394",
"species": "Human"
},
{
"accession": "167000",
"database": "OMIM",
"url": "https://www.omim.org/entry/167000",
"species": "Human"
}
]
},
{
"diseaseId": 1134,
"name": "B-cell chronic lymphocytic leukemia",
"description": "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma.",
"synonyms": [
{
"name": "B-CLL"
},
{
"name": "lymphoplasmacytic leukemia"
},
{
"name": "small lymphocytic lymphoma"
}
],
"databaseLinks": [
{
"accession": "151400",
"database": "OMIM",
"url": "https://www.omim.org/entry/151400",
"species": "Human"
},
{
"accession": "ORPHA67038",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=67038",
"species": "Human"
}
]
},
{
"diseaseId": 1237,
"name": "Pemphigus",
"description": "A group of rare, chronic autoimmune diseases of the skin and connective tissue which are characterized by severe blistering of the skin and mucous membranes. The most common subtype is pemphigus vulgaris (PV).",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:9182",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9182",
"species": "Human"
}
]
},
{
"diseaseId": 1222,
"name": "Juvenile idiopathic arthritis",
"description": "A family of inflammatory joint conditions with varying symptoms and severity, with onset before age 16. Includes oligoarthritis, polyarthritis, enthesitis-related JIA, psoriatic arthritis and systemic-onset JIA.",
"synonyms": [
{
"name": "JIA"
},
{
"name": "juvenile Still's disease"
}
],
"databaseLinks": [
]
},
{
"diseaseId": 372,
"name": "Febrile seizures, familial, 1; FEB1",
"synonyms": [
],
"databaseLinks": [
{
"accession": "121210",
"database": "OMIM",
"url": "https://www.omim.org/entry/121210",
"species": "Human"
}
]
},
{
"diseaseId": 600,
"name": "Megalencephaly-capillary malformation-polymicrogyria syndrome",
"synonyms": [
],
"databaseLinks": [
{
"accession": "602501",
"database": "OMIM",
"url": "https://www.omim.org/entry/602501",
"species": "Human"
},
{
"accession": "ORPHA60040",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=60040",
"species": "Human"
}
]
},
{
"diseaseId": 772,
"name": "Precocious puberty, central, 1",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:14038",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14038",
"species": "Human"
},
{
"accession": "176400",
"database": "OMIM",
"url": "https://www.omim.org/entry/176400",
"species": "Human"
}
]
},
{
"diseaseId": 335,
"name": "Multiple pterygium syndrome, escobar variant; EVMPS",
"description": "A fetal akinesia deformation sequence (FADS) disorder",
"synonyms": [
{
"name": "Autosomal recessive multiple pterygium syndrome"
},
{
"name": "Autosomal recessive non-lethal multiple pterygium"
},
{
"name": "Escobar syndrome"
}
],
"databaseLinks": [
{
"accession": "265000",
"database": "OMIM",
"url": "https://www.omim.org/entry/265000",
"species": "Human"
},
{
"accession": "ORPHA2990",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2990",
"species": "Human"
}
]
},
{
"diseaseId": 591,
"name": "Mantle cell lymphoma",
"description": "MCL is an aggressive form of non-Hodgkin’s lymphoma (NHL; median survival of 3-4 years) that arises from B-cells originating within the mantle zone of lymphatic follicles. In the US, around six percent of all new NHL cases are MCL.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050746",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050746",
"species": "Human"
},
{
"accession": "ORPHA52416",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52416",
"species": "Human"
}
]
},
{
"diseaseId": 603,
"name": "Megaloblastic anemia due to dihydrofolate reductase deficiency",
"description": "",
"synonyms": [
{
"name": "Constitutional megaloblastic anemia with severe neurologic disease"
}
],
"databaseLinks": [
{
"accession": "613839",
"database": "OMIM",
"url": "https://www.omim.org/entry/613839",
"species": "Human"
},
{
"accession": "ORPHA319651",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=319651",
"species": "Human"
}
]
},
{
"diseaseId": 808,
"name": "Rabson-Mendenhall syndrome",
"description": "",
"synonyms": [
{
"name": "Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities"
}
],
"databaseLinks": [
{
"accession": "262190",
"database": "OMIM",
"url": "https://www.omim.org/entry/262190",
"species": "Human"
},
{
"accession": "ORPHA769",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=769",
"species": "Human"
}
]
},
{
"diseaseId": 383,
"name": "Gastric cancer",
"description": "",
"synonyms": [
{
"name": "Stomach cancer"
}
],
"databaseLinks": [
{
"accession": "DOID:10534",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10534",
"species": "Human"
},
{
"accession": "613659",
"database": "OMIM",
"url": "https://www.omim.org/entry/613659",
"species": "Human"
}
]
},
{
"diseaseId": 7,
"name": "3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "605911",
"database": "OMIM",
"url": "https://www.omim.org/entry/605911",
"species": "Human"
},
{
"accession": "ORPHA35701",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35701",
"species": "Human"
}
]
},
{
"diseaseId": 301,
"name": "Epidermolysis bullosa dystrophica, autosomal recessive",
"description": "",
"synonyms": [
{
"name": "Epidermolysis bullosa dystrophica"
},
{
"name": "Severe generalized recessive dystrophic epidermolysis bullosa"
}
],
"databaseLinks": [
{
"accession": "DOID:4959",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4959",
"species": "Human"
},
{
"accession": "226600",
"database": "OMIM",
"url": "https://www.omim.org/entry/226600",
"species": "Human"
},
{
"accession": "ORPHA79408",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79408",
"species": "Human"
}
]
},
{
"diseaseId": 1011,
"name": "Mental retardation, autosomal dominant 30; MRD30",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "616083",
"database": "OMIM",
"url": "https://www.omim.org/entry/616083",
"species": "Human"
}
]
},
{
"diseaseId": 757,
"name": "Pilocytic astrocytoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:4851",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4851",
"species": "Human"
},
{
"accession": "ORPHA251612",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251612",
"species": "Human"
}
]
},
{
"diseaseId": 771,
"name": "Prader-Willi syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:11983",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11983",
"species": "Human"
},
{
"accession": "176270",
"database": "OMIM",
"url": "https://www.omim.org/entry/176270",
"species": "Human"
}
]
},
{
"diseaseId": 827,
"name": "Retinitis pigmentosa 62; RP62",
"description": "",
"synonyms": [
{
"name": "Retinitis pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:10584",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10584",
"species": "Human"
},
{
"accession": "614181",
"database": "OMIM",
"url": "https://www.omim.org/entry/614181",
"species": "Human"
},
{
"accession": "ORPHA791",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=791",
"species": "Human"
}
]
},
{
"diseaseId": 254,
"name": "Cornelia de Lange syndrome 5",
"description": "",
"synonyms": [
{
"name": "Cornelia de Lange syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:11725",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11725",
"species": "Human"
},
{
"accession": "300882",
"database": "OMIM",
"url": "https://www.omim.org/entry/300882",
"species": "Human"
},
{
"accession": "ORPHA199",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=199",
"species": "Human"
}
]
},
{
"diseaseId": 377,
"name": "Fibrosarcoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:3355",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3355",
"species": "Human"
},
{
"accession": "ORPHA2030",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2030",
"species": "Human"
}
]
},
{
"diseaseId": 952,
"name": "West syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050562",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050562",
"species": "Human"
},
{
"accession": "ORPHA3451",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3451",
"species": "Human"
}
]
},
{
"diseaseId": 159,
"name": "Branched-chain ketoacid dehydrogenase kinase deficiency",
"description": "",
"synonyms": [
{
"name": "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
}
],
"databaseLinks": [
{
"accession": "614923",
"database": "OMIM",
"url": "https://www.omim.org/entry/614923",
"species": "Human"
},
{
"accession": "ORPHA308410",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=308410",
"species": "Human"
}
]
},
{
"diseaseId": 432,
"name": "Hereditary sensory and autonomic neuropathy type 2",
"description": "",
"synonyms": [
{
"name": "Hereditary sensory and autonomic neuropathy"
}
],
"databaseLinks": [
{
"accession": "DOID:11533",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11533",
"species": "Human"
},
{
"accession": "ORPHA970",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=970",
"species": "Human"
}
]
},
{
"diseaseId": 986,
"name": "Noonan syndrome 6; NS6",
"description": "",
"synonyms": [
{
"name": "Noonan syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:3490",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3490",
"species": "Human"
},
{
"accession": "613224",
"database": "OMIM",
"url": "https://www.omim.org/entry/613224",
"species": "Human"
},
{
"accession": "ORPHA648",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=648",
"species": "Human"
}
]
},
{
"diseaseId": 857,
"name": "Growth hormone insensitivity, partial; GHIP",
"description": "",
"synonyms": [
{
"name": "Short stature due to partial GHR deficiency"
}
],
"databaseLinks": [
{
"accession": "604271",
"database": "OMIM",
"url": "https://www.omim.org/entry/604271",
"species": "Human"
},
{
"accession": "ORPHA314802",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=314802",
"species": "Human"
}
]
},
{
"diseaseId": 890,
"name": "Stevens-Johnson syndrome",
"description": "",
"synonyms": [
{
"name": "Severe cutaneous adverse reaction, susceptibility to"
}
],
"databaseLinks": [
{
"accession": "DOID:0050426",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050426",
"species": "Human"
},
{
"accession": "608579",
"database": "OMIM",
"url": "https://www.omim.org/entry/608579",
"species": "Human"
},
{
"accession": "ORPHA36426",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=36426",
"species": "Human"
}
]
},
{
"diseaseId": 20,
"name": "Acetyl-CoA acetyltransferase-2 deficiency; ACAT2D",
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"accession": "615557",
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"accession": "616324",
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"accession": "ORPHA590",
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"accession": "ORPHA98913",
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"accession": "ORPHA247511",
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"name": "Cathepsin D deficiency"
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"name": "CLN10 disease"
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"name": "Neuronal ceroid lipofuscinosis"
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"accession": "ORPHA228337",
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"accession": "ORPHA3202",
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"accession": "ORPHA742",
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"accession": "234000",
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"accession": "ORPHA330",
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"accession": "ORPHA100057",
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"accession": "300274",
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"accession": "ORPHA99429",
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"diseaseId": 1002,
"name": "Honey-droplet corneal dystrophy",
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"accession": "613065",
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"accession": "ORPHA99860",
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"accession": "ORPHA178345",
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"name": "Atrial fibrillation with bradyarrhythmia"
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"name": "Sick sinus syndrome"
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"name": "Sinus node disease, familial, autosomal dominant"
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"accession": "ORPHA88939",
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"accession": "ORPHA352662",
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"accession": "ORPHA276575",
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"accession": "ORPHA284149",
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"name": "Malignant migrating partial seizures of infancy"
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{
"accession": "614959",
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{
"accession": "ORPHA293181",
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"accession": "ORPHA97279",
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"accession": "160150",
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"name": "Loeys-Dietz syndrome"
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"accession": "610168",
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"accession": "614254",
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"accession": "ORPHA178469",
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"accession": "ORPHA313846",
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"diseaseId": 737,
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"accession": "312300",
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"accession": "ORPHA90797",
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"name": "Autosomal recessive systemic lupus erythematosus",
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"diseaseId": 615,
"name": "Mental retardation, language delay, hyperactivity, aggression, hearing impairment, cranial malformation, seizures",
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"diseaseId": 452,
"name": "Autosomal recessive hyperinsulinism due to SUR1 deficiency",
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"accession": "256450",
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"accession": "ORPHA79643",
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"diseaseId": 798,
"name": "Pseudohypoaldosteronism, type IIC; PHA2C",
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"accession": "614492",
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"accession": "ORPHA88940",
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"diseaseId": 830,
"name": "Rhabdoid tumor predisposition syndrome 2",
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"accession": "ORPHA231108",
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"accession": "ORPHA314404",
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"diseaseId": 988,
"name": "RAS-associated autoimmune leukoproliferative disorder; RALD",
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"accession": "ORPHA268114",
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"diseaseId": 964,
"name": "Young adult-onset Parkinsonism",
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"diseaseId": 601,
"name": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1",
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"accession": "ORPHA83473",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=83473",
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"diseaseId": 590,
"name": "Malignant migrating partial seizures of infancy",
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"diseaseId": 82,
"name": "Arterial hypertension",
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"diseaseId": 990,
"name": "Juvenile myelomonocytic leukemia; JMML",
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"accession": "DOID:0050458",
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"accession": "607785",
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"accession": "ORPHA86834",
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"diseaseId": 202,
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"diseaseId": 685,
"name": "Neutrophilia, hereditary",
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"accession": "162830",
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{
"accession": "ORPHA279943",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=279943",
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"diseaseId": 905,
"name": "Testicular germ cell tumor",
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"name": "Seminoma"
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"name": "Testicular pure germ cell tumor"
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"accession": "DOID:4440",
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{
"accession": "DOID:4087",
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"accession": "273300",
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"diseaseId": 973,
"name": "Night blindness, congenital stationary, autosomal dominant 2; CSNBAD2",
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"name": "Congenital stationary night blindness"
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"accession": "163500",
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{
"accession": "ORPHA215",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=215",
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]
},
{
"diseaseId": 610,
"name": "Mental retardation syndrome, X-linked, Siderius type",
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{
"accession": "ORPHA85287",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85287",
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"diseaseId": 79,
"name": "Aromatase deficiency",
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"accession": "613546",
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{
"accession": "ORPHA91",
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]
},
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"diseaseId": 678,
"name": "Neurodegeneration with optic atrophy, childhood onset",
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"name": "Early-onset progressive neurodegeneration - blindness - ataxia - spasticity"
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"accession": "615491",
"database": "OMIM",
"url": "https://www.omim.org/entry/615491",
"species": "Human"
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{
"accession": "ORPHA352654",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=352654",
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},
{
"diseaseId": 812,
"name": "Renal cell carcinoma, papillary, 1; RCCP1",
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"name": "Hereditary papillary renal cell carcinoma"
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{
"name": "Papillary renal cell carcinoma"
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"accession": "DOID:4465",
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{
"accession": "605074",
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"url": "https://www.omim.org/entry/605074",
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{
"accession": "ORPHA47044",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=47044",
"species": "Human"
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]
},
{
"diseaseId": 579,
"name": "Lymphoproliferative syndrome 1",
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"name": "Autosomal recessive lymphoproliferative disease"
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"name": "Lymphoproliferative disease"
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"url": "http://purl.obolibrary.org/obo/DOID_619",
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{
"accession": "613011",
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"url": "https://www.omim.org/entry/613011",
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{
"accession": "ORPHA238505",
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"diseaseId": 510,
"name": "IRAK4 deficiency",
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"name": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
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"accession": "ORPHA70592",
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"diseaseId": 1176,
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]
},
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"diseaseId": 1186,
"name": "Griscelli syndrome, type 2",
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"accession": "607624",
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]
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{
"diseaseId": 198,
"name": "Central hypoventilation syndrome, congenital; CCHS",
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"name": "Haddad syndrome"
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{
"name": "Ondine-Hirschsprung disease"
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],
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"accession": "209880",
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"url": "https://www.omim.org/entry/209880",
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{
"accession": "ORPHA99803",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99803",
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]
},
{
"diseaseId": 17,
"name": "ABCD syndrome",
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"accession": "DOID:0050600",
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"url": "http://purl.obolibrary.org/obo/DOID_0050600",
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{
"accession": "600501",
"database": "OMIM",
"url": "https://www.omim.org/entry/600501",
"species": "Human"
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{
"accession": "ORPHA918",
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"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=918",
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]
},
{
"diseaseId": 212,
"name": "Chondrodysplasia, acromesomelic, with genital anomalies",
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"accession": "609441",
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"species": "Human"
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]
},
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"diseaseId": 28,
"name": "Acromesomelia and painful neuropathy",
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"synonyms": [
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"name": "acromesomelic dysplasia"
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{
"name": "neuropathy"
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"accession": "DOID:870",
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"url": "http://purl.obolibrary.org/obo/DOID_870",
"species": "Human"
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{
"accession": "DOID:0080049",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0080049",
"species": "Human"
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]
},
{
"diseaseId": 1116,
"name": "Myasthenic syndrome, congenital, 6, presynaptic; CMS6",
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"name": "Congenital myasthenic syndrome"
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{
"name": "Presynaptic congenital myasthenic syndromes"
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],
"databaseLinks": [
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"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
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{
"accession": "254210",
"database": "OMIM",
"url": "https://www.omim.org/entry/254210",
"species": "Human"
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{
"accession": "ORPHA98914",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98914",
"species": "Human"
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{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
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]
},
{
"diseaseId": 1290,
"name": "Netherton syndrome",
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"name": "Bamboo hair syndrome"
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"name": "Comèl-Netherton syndrome"
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],
"databaseLinks": [
{
"accession": "256500",
"database": "OMIM",
"url": "https://www.omim.org/entry/256500",
"species": "Human"
},
{
"accession": "ORPHA634",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=634",
"species": "Human"
}
]
},
{
"diseaseId": 1089,
"name": "Brachydactyly-mental retardation syndrome; BDMR",
"description": "",
"synonyms": [
{
"name": "2q37 microdeletion syndrome"
}
],
"databaseLinks": [
{
"accession": "600430",
"database": "OMIM",
"url": "https://www.omim.org/entry/600430",
"species": "Human"
},
{
"accession": "ORPHA1001",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1001",
"species": "Human"
}
]
},
{
"diseaseId": 1147,
"name": "Diabetes mellitus, insulin-dependent, 12; IDDM12",
"description": "",
"synonyms": [
{
"name": "Insulin-dependent diabetes mellitus 12"
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{
"name": "type 1 diabetes mellitus"
}
],
"databaseLinks": [
{
"accession": "DOID:9744",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9744",
"species": "Human"
},
{
"accession": "601388",
"database": "OMIM",
"url": "https://www.omim.org/entry/601388",
"species": "Human"
}
]
},
{
"diseaseId": 720,
"name": "Osteogenesis imperfecta, type XIII",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "614856",
"database": "OMIM",
"url": "https://www.omim.org/entry/614856",
"species": "Human"
}
]
},
{
"diseaseId": 997,
"name": "Diamond-Blackfan anemia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:1339",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1339",
"species": "Human"
}
]
},
{
"diseaseId": 917,
"name": "Thrombophilia due to protein C deficiency, autosomal recessive",
"description": "",
"synonyms": [
{
"name": "Hereditary thrombophilia due to congenital protein C deficiency"
},
{
"name": "Thrombophilia"
}
],
"databaseLinks": [
{
"accession": "DOID:2452",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2452",
"species": "Human"
},
{
"accession": "612304",
"database": "OMIM",
"url": "https://www.omim.org/entry/612304",
"species": "Human"
},
{
"accession": "ORPHA745",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=745",
"species": "Human"
}
]
},
{
"diseaseId": 1280,
"name": "Early Infantile Epileptic Encephalopathy 42 (EIEE42)",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "617106",
"database": "OMIM",
"url": "https://www.omim.org/entry/617106",
"species": "Human"
}
]
},
{
"diseaseId": 1029,
"name": "Recurrent miscarriage",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 515,
"name": "Isolated bone marrow mastocytosis",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA158778",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158778",
"species": "Human"
}
]
},
{
"diseaseId": 1068,
"name": "Macular degeneration, age-related, 10; ARMD10",
"description": "",
"synonyms": [
{
"name": "Age related macular degeneration"
}
],
"databaseLinks": [
{
"accession": "DOID:10871",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_10871",
"species": "Human"
},
{
"accession": "611488",
"database": "OMIM",
"url": "https://www.omim.org/entry/611488",
"species": "Human"
},
{
"accession": "ORPHA279",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=279",
"species": "Human"
}
]
},
{
"diseaseId": 1256,
"name": "Axial spondyloarthritis",
"description": "Axial spondyloarthritis is an umbrella term that covers a diverse family of diseases that share clinical and genetic features. Diseases encompassed by this term are all chronic autoinflammatory diseases that cause inflammation and pain in the joints of the spine and/or sacroiliac joints (the axial sleleton), such as ankylosing spondylitis.",
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{
"name": "Axial SpA"
}
],
"databaseLinks": [
]
},
{
"diseaseId": 1000,
"name": "Cardiomyopathy, dilated, 1O; CMD1O",
"description": "",
"synonyms": [
{
"name": "Dilated cardiomyopathy"
},
{
"name": "Familial isolated dilated cardiomyopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:12930",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12930",
"species": "Human"
},
{
"accession": "608569",
"database": "OMIM",
"url": "https://www.omim.org/entry/608569",
"species": "Human"
},
{
"accession": "ORPHA154",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=154",
"species": "Human"
}
]
},
{
"diseaseId": 616,
"name": "Mental retardation, X-linked 19; MRX19",
"description": "",
"synonyms": [
{
"name": "Non-specific X-linked mental retardation"
},
{
"name": "X-linked non-syndromic intellectual disability"
}
],
"databaseLinks": [
{
"accession": "DOID:0050776",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050776",
"species": "Human"
},
{
"accession": "300844",
"database": "OMIM",
"url": "https://www.omim.org/entry/300844",
"species": "Human"
},
{
"accession": "ORPHA777",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=777",
"species": "Human"
}
]
},
{
"diseaseId": 1245,
"name": "Simpson-Golabi-Behmel syndrome",
"description": "A rare X-linked recessive syndrome characterised by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumour risk.",
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{
"name": "Golabi-Rosen syndrome"
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{
"name": "SGBS1"
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{
"name": "Simpson-Golabi-Behmel syndrome type 1"
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{
"name": "X-linked dysplasia gigantism syndrome"
}
],
"databaseLinks": [
{
"accession": "312870",
"database": "OMIM",
"url": "https://www.omim.org/entry/312870",
"species": "Human"
},
{
"accession": "ORPHA373",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=373",
"species": "Human"
}
]
},
{
"diseaseId": 1211,
"name": "Autoimmune thrombocytopenic purpura",
"description": "Autoimmune thrombocytopenic purpura (a.k.a. primary immune thrombocytopenia) is an acquired autoimmune disorder of children and adults. The condition is caused by destruction of platelets by an autoantibody to platelet glycoproteins. It is characterised by a low platelet count, and clinical signs include petechiae, purpura, bruising, and overt bleeding.",
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{
"name": "idiopathic thrombocytopenic purpura"
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{
"name": "Immune thrombocytopenia"
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{
"name": "Immune thrombocytopenic purpura"
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{
"name": "ITP"
},
{
"name": "primary immune thrombocytopenia"
},
{
"name": "primary thrombocytopenic purpura"
}
],
"databaseLinks": [
{
"accession": "DOID:8924",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8924",
"species": "Human"
},
{
"accession": "188030",
"database": "OMIM",
"url": "https://www.omim.org/entry/188030",
"species": "Human"
},
{
"accession": "ORPHA3002",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3002",
"species": "Human"
}
]
},
{
"diseaseId": 706,
"name": "Obesity due to prohormone convertase I deficiency",
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"databaseLinks": [
{
"accession": "600955",
"database": "OMIM",
"url": "https://www.omim.org/entry/600955",
"species": "Human"
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{
"accession": "612362",
"database": "OMIM",
"url": "https://www.omim.org/entry/612362",
"species": "Human"
},
{
"accession": "ORPHA71528",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71528",
"species": "Human"
}
]
},
{
"diseaseId": 83,
"name": "Arteriosclerosis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2349",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2349",
"species": "Human"
}
]
},
{
"diseaseId": 63,
"name": "Amyotrophic lateral sclerosis 19; ALS19",
"description": "",
"synonyms": [
{
"name": "Amyotrophic lateral sclerosis"
}
],
"databaseLinks": [
{
"accession": "615515",
"database": "OMIM",
"url": "https://www.omim.org/entry/615515",
"species": "Human"
},
{
"accession": "ORPHA803",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=803",
"species": "Human"
}
]
},
{
"diseaseId": 516,
"name": "Isolated brachycephaly",
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"databaseLinks": [
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"accession": "ORPHA35099",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35099",
"species": "Human"
}
]
},
{
"diseaseId": 956,
"name": "Wilson-Turner X-linked mental retardation syndrome",
"description": "",
"synonyms": [
{
"name": "Wilson-Turner syndrome"
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],
"databaseLinks": [
{
"accession": "309585",
"database": "OMIM",
"url": "https://www.omim.org/entry/309585",
"species": "Human"
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{
"accession": "ORPHA3459",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3459",
"species": "Human"
}
]
},
{
"diseaseId": 666,
"name": "Myopathy, early-onset, with fatal cardiomyopathy",
"description": "",
"synonyms": [
{
"name": "Early-onset myopathy with fatal cardiomyopathy"
}
],
"databaseLinks": [
{
"accession": "611705",
"database": "OMIM",
"url": "https://www.omim.org/entry/611705",
"species": "Human"
},
{
"accession": "ORPHA289377",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=289377",
"species": "Human"
}
]
},
{
"diseaseId": 542,
"name": "Donohue syndrome",
"description": "",
"synonyms": [
{
"name": "Leprechaunism"
}
],
"databaseLinks": [
{
"accession": "DOID:0050470",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050470",
"species": "Human"
},
{
"accession": "246200",
"database": "OMIM",
"url": "https://www.omim.org/entry/246200",
"species": "Human"
},
{
"accession": "ORPHA508",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=508",
"species": "Human"
}
]
},
{
"diseaseId": 395,
"name": "Gliosarcoma",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:3071",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3071",
"species": "Human"
},
{
"accession": "ORPHA251576",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251576",
"species": "Human"
}
]
},
{
"diseaseId": 216,
"name": "Chromosome 16p13.3 deletion syndrome",
"description": "",
"synonyms": [
{
"name": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
}
],
"databaseLinks": [
{
"accession": "610543",
"database": "OMIM",
"url": "https://www.omim.org/entry/610543",
"species": "Human"
},
{
"accession": "ORPHA353281",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=353281",
"species": "Human"
}
]
},
{
"diseaseId": 958,
"name": "Wolff-Parkinson-White syndrome",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:384",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_384",
"species": "Human"
},
{
"accession": "194200",
"database": "OMIM",
"url": "https://www.omim.org/entry/194200",
"species": "Human"
},
{
"accession": "ORPHA907",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=907",
"species": "Human"
}
]
},
{
"diseaseId": 882,
"name": "Spinocerebellar ataxia 6; SCA6",
"description": "",
"synonyms": [
{
"name": "Spinocerebellar ataxia"
}
],
"databaseLinks": [
{
"accession": "DOID:1441",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1441",
"species": "Human"
},
{
"accession": "183086",
"database": "OMIM",
"url": "https://www.omim.org/entry/183086",
"species": "Human"
},
{
"accession": "ORPHA98758",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98758",
"species": "Human"
}
]
},
{
"diseaseId": 295,
"name": "Emesis",
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],
"databaseLinks": [
]
},
{
"diseaseId": 694,
"name": "Nodular urticaria pigmentosa",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA158772",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158772",
"species": "Human"
}
]
},
{
"diseaseId": 213,
"name": "Chondrodysplasia, Blomstrand type; BOCD",
"description": "",
"synonyms": [
{
"name": "Blomstrand lethal chondrodysplasia"
}
],
"databaseLinks": [
{
"accession": "215045",
"database": "OMIM",
"url": "https://www.omim.org/entry/215045",
"species": "Human"
},
{
"accession": "ORPHA50945",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=50945",
"species": "Human"
}
]
},
{
"diseaseId": 955,
"name": "Wilm's tumor",
"description": "",
"synonyms": [
{
"name": "Nephroblastoma"
}
],
"databaseLinks": [
{
"accession": "DOID:2154",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2154",
"species": "Human"
},
{
"accession": "ORPHA654",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=654",
"species": "Human"
}
]
},
{
"diseaseId": 1114,
"name": "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C",
"description": "",
"synonyms": [
{
"name": "Congenital myasthenic syndrome"
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{
"name": "Postsynaptic congenital myasthenic syndromes"
}
],
"databaseLinks": [
{
"accession": "DOID:3635",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3635",
"species": "Human"
},
{
"accession": "608931",
"database": "OMIM",
"url": "https://www.omim.org/entry/608931",
"species": "Human"
},
{
"accession": "ORPHA98913",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98913",
"species": "Human"
},
{
"accession": "ORPHA590",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=590",
"species": "Human"
}
]
},
{
"diseaseId": 274,
"name": "Deafness-infertility syndrome",
"description": "",
"synonyms": [
{
"name": "Deafness, sensineural, and male infertility"
}
],
"databaseLinks": [
{
"accession": "611102",
"database": "OMIM",
"url": "https://www.omim.org/entry/611102",
"species": "Human"
},
{
"accession": "ORPHA94064",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=94064",
"species": "Human"
}
]
},
{
"diseaseId": 801,
"name": "Psoriasis",
"description": "A long-term autoimmune disease characterized by patches of red, itchy, and scaly skin. Five types of psoriasis are recognised: plaque (psoriasis vulgari), guttate, inverse, pustular, and erythrodermic, with plaque psoriasis being the most common type.",
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],
"databaseLinks": [
{
"accession": "DOID:8893",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_8893",
"species": "Human"
}
]
},
{
"diseaseId": 1103,
"name": "Myopathy, centronuclear, 5; CNM5",
"description": "",
"synonyms": [
{
"name": "Autosomal recessive centronuclear myopathy"
},
{
"name": "Centronuclear myopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:14717",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14717",
"species": "Human"
},
{
"accession": "615959",
"database": "OMIM",
"url": "https://www.omim.org/entry/615959",
"species": "Human"
},
{
"accession": "ORPHA169186",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=169186",
"species": "Human"
}
]
},
{
"diseaseId": 833,
"name": "Rolandic epilepsy - speech dyspraxia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "245570",
"database": "OMIM",
"url": "https://www.omim.org/entry/245570",
"species": "Human"
},
{
"accession": "ORPHA163721",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=163721",
"species": "Human"
}
]
},
{
"diseaseId": 669,
"name": "Narcolepsy-cataplexy",
"description": "",
"synonyms": [
{
"name": "Cataplexy and narcolepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:9199",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9199",
"species": "Human"
},
{
"accession": "ORPHA2073",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2073",
"species": "Human"
}
]
},
{
"diseaseId": 223,
"name": "Chronic neutrophilic leukemia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA86829",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=86829",
"species": "Human"
}
]
},
{
"diseaseId": 352,
"name": "Glucocorticoid deficiency 1; GCCD1",
"description": "",
"synonyms": [
{
"name": "Familial glucocorticoid deficiency"
}
],
"databaseLinks": [
{
"accession": "202200",
"database": "OMIM",
"url": "https://www.omim.org/entry/202200",
"species": "Human"
},
{
"accession": "ORPHA361",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=361",
"species": "Human"
}
]
},
{
"diseaseId": 1244,
"name": "severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.",
"description": "In FOXN1 deficiency in humans is the counterpart of the nude SCID mouse phenotype. The clinical hallmarks are athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy.",
"synonyms": [
{
"name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"
}
],
"databaseLinks": [
{
"accession": "601705",
"database": "OMIM",
"url": "https://www.omim.org/entry/601705",
"species": "Human"
}
]
},
{
"diseaseId": 362,
"name": "Familial partial lipodystrophy associated with PPARG mutations",
"description": "",
"synonyms": [
{
"name": "Familial partial lipodystrophy"
},
{
"name": "Lipodystrophy, familial partial, type 3; FPLD3"
}
],
"databaseLinks": [
{
"accession": "DOID:0050440",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050440",
"species": "Human"
},
{
"accession": "604367",
"database": "OMIM",
"url": "https://www.omim.org/entry/604367",
"species": "Human"
},
{
"accession": "ORPHA79083",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79083",
"species": "Human"
}
]
},
{
"diseaseId": 221,
"name": "Chronic myelomonocytic leukemia",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA98823",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=98823",
"species": "Human"
}
]
},
{
"diseaseId": 752,
"name": "Pfeiffer syndrome type 2",
"description": "",
"synonyms": [
{
"name": "Pfeiffer syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:14705",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14705",
"species": "Human"
},
{
"accession": "101600",
"database": "OMIM",
"url": "https://www.omim.org/entry/101600",
"species": "Human"
},
{
"accession": "ORPHA93259",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93259",
"species": "Human"
}
]
},
{
"diseaseId": 1013,
"name": "Severe progressive cardiac conduction disorder",
"description": "",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 688,
"name": "Nicotine dependence, susceptibility to",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:0050742",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050742",
"species": "Human"
},
{
"accession": "612052",
"database": "OMIM",
"url": "https://www.omim.org/entry/612052",
"species": "Human"
}
]
},
{
"diseaseId": 1288,
"name": "Spinocerebellar ataxia, autosomal recessive 16; SCAR16",
"description": "SCAR16 is caused by homozygous or compound heterozygous mutation in the STUB1 gene. It is a progressive neurologic disorder that is characterised by truncal and limb ataxia rhat cause gait instability and which is associated with cerebellar atrophy. Onset is generally in teenagers. There are some overlapping features with SCA48.",
"synonyms": [
],
"databaseLinks": [
{
"accession": "615768",
"database": "OMIM",
"url": "https://www.omim.org/entry/615768",
"species": "Human"
}
]
},
{
"diseaseId": 594,
"name": "Maturity-onset diabetes of the young, type 1; MODY1",
"description": "",
"synonyms": [
{
"name": "Maturity-onset diabetes of the young"
},
{
"name": "MODY"
}
],
"databaseLinks": [
{
"accession": "DOID:0050524",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050524",
"species": "Human"
},
{
"accession": "125850",
"database": "OMIM",
"url": "https://www.omim.org/entry/125850",
"species": "Human"
},
{
"accession": "606391",
"database": "OMIM",
"url": "https://www.omim.org/entry/606391",
"species": "Human"
},
{
"accession": "ORPHA552",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=552",
"species": "Human"
}
]
},
{
"diseaseId": 460,
"name": "Hypocalcemia, autosomal dominant, with Bartter syndrome",
"description": "",
"synonyms": [
{
"name": "Autosomal dominant hypocalcemia"
},
{
"name": "Bartter syndrome with hypocalcemia"
}
],
"databaseLinks": [
{
"accession": "601198",
"database": "OMIM",
"url": "https://www.omim.org/entry/601198",
"species": "Human"
},
{
"accession": "ORPHA428",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=428",
"species": "Human"
},
{
"accession": "ORPHA263417",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=263417",
"species": "Human"
}
]
},
{
"diseaseId": 499,
"name": "Injury aggravation in neurotrauma",
"synonyms": [
],
"databaseLinks": [
]
},
{
"diseaseId": 265,
"name": "Cryptorchidism",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:11383",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11383",
"species": "Human"
}
]
},
{
"diseaseId": 111,
"name": "Nakajo-Nishimura syndrome",
"description": "",
"synonyms": [
{
"name": "Amyotrophy - fat tissue anomaly"
},
{
"name": "Autoinflammation, lipodystrophy, and dermatosis syndrome"
},
{
"name": "Secondary hypertrophic osteoperiostosis with pernio"
}
],
"databaseLinks": [
{
"accession": "256040",
"database": "OMIM",
"url": "https://www.omim.org/entry/256040",
"species": "Human"
},
{
"accession": "ORPHA2615",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2615",
"species": "Human"
}
]
},
{
"diseaseId": 1093,
"name": "Myeloperoxidase deficiency; MPOD",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "254600",
"database": "OMIM",
"url": "https://www.omim.org/entry/254600",
"species": "Human"
},
{
"accession": "ORPHA2587",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2587",
"species": "Human"
}
]
},
{
"diseaseId": 1076,
"name": "Metabolic syndrome",
"description": "",
"synonyms": [
{
"name": "Metabolic syndrome X"
}
],
"databaseLinks": [
{
"accession": "DOID:14221",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14221",
"species": "Human"
}
]
},
{
"diseaseId": 851,
"name": "Severe combined immunodeficiency due to LCK deficiency",
"description": "",
"synonyms": [
{
"name": "Immunodeficiency 22; IMD22"
}
],
"databaseLinks": [
{
"accession": "615758",
"database": "OMIM",
"url": "https://www.omim.org/entry/615758",
"species": "Human"
},
{
"accession": "ORPHA280142",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=280142",
"species": "Human"
}
]
},
{
"diseaseId": 968,
"name": "Epilepsy, idiopathic generalized, susceptibility to, 12; EIG12",
"description": "",
"synonyms": [
{
"name": "Idiopathic generalized epilepsy"
}
],
"databaseLinks": [
{
"accession": "DOID:1827",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1827",
"species": "Human"
},
{
"accession": "614847",
"database": "OMIM",
"url": "https://www.omim.org/entry/614847",
"species": "Human"
}
]
},
{
"diseaseId": 16,
"name": "46,XY sex reversal 2; SRXY2",
"description": "",
"synonyms": [
{
"name": "46,XY complete gonadal dysgenesis"
},
{
"name": "46 XY gonadal dysgenesis"
},
{
"name": "46,XY partial gonadal dysgenesis"
}
],
"databaseLinks": [
{
"accession": "DOID:14448",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_14448",
"species": "Human"
},
{
"accession": "300018",
"database": "OMIM",
"url": "https://www.omim.org/entry/300018",
"species": "Human"
},
{
"accession": "ORPHA242",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=242",
"species": "Human"
},
{
"accession": "ORPHA251510",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=251510",
"species": "Human"
}
]
},
{
"diseaseId": 62,
"name": "Amyotrophic lateral sclerosis 16, juvenile; ALS16",
"description": "",
"synonyms": [
{
"name": "Juvenile amyotrophic lateral sclerosis"
}
],
"databaseLinks": [
{
"accession": "614373",
"database": "OMIM",
"url": "https://www.omim.org/entry/614373",
"species": "Human"
},
{
"accession": "ORPHA300605",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=300605",
"species": "Human"
}
]
},
{
"diseaseId": 993,
"name": "Mast cell disease",
"description": "",
"synonyms": [
{
"name": "Maculopapular cutaneous mastocytosis"
},
{
"name": "Typical urticaria pigmentosa"
},
{
"name": "Urticaria pigmentosa"
}
],
"databaseLinks": [
{
"accession": "DOID:12309",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12309",
"species": "Human"
},
{
"accession": "154800",
"database": "OMIM",
"url": "https://www.omim.org/entry/154800",
"species": "Human"
},
{
"accession": "ORPHA79457",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79457",
"species": "Human"
},
{
"accession": "ORPHA158766",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=158766",
"species": "Human"
}
]
},
{
"diseaseId": 326,
"name": "Epileptic encephalopathy, early infantile, 7; EIEE7",
"description": "",
"synonyms": [
{
"name": "Early infantile epileptic encephalopathy"
},
{
"name": "Infantile epileptic encephalopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:2481",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2481",
"species": "Human"
},
{
"accession": "613720",
"database": "OMIM",
"url": "https://www.omim.org/entry/613720",
"species": "Human"
},
{
"accession": "ORPHA1934",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1934",
"species": "Human"
}
]
},
{
"diseaseId": 805,
"name": "Pulmonary venoocclusive disease 1, autosomal dominant; PVOD1",
"description": "",
"synonyms": [
{
"name": "Pulmonary venoocclusive disease"
}
],
"databaseLinks": [
{
"accession": "DOID:5453",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_5453",
"species": "Human"
},
{
"accession": "265450",
"database": "OMIM",
"url": "https://www.omim.org/entry/265450",
"species": "Human"
},
{
"accession": "ORPHA31837",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=31837",
"species": "Human"
}
]
},
{
"diseaseId": 655,
"name": "Myelofibrosis",
"description": "",
"synonyms": [
{
"name": "Myelofibrosis with myeloid metaplasia"
}
],
"databaseLinks": [
{
"accession": "DOID:4971",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_4971",
"species": "Human"
},
{
"accession": "254450",
"database": "OMIM",
"url": "https://www.omim.org/entry/254450",
"species": "Human"
},
{
"accession": "ORPHA824",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=824",
"species": "Human"
}
]
},
{
"diseaseId": 1139,
"name": "Bronchiectasis with or without elevated sweat chloride 2; BESC2",
"description": "",
"synonyms": [
{
"name": "Bronchiectasis"
},
{
"name": "Idiopathic bronchiectasis"
}
],
"databaseLinks": [
{
"accession": "DOID:9563",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_9563",
"species": "Human"
},
{
"accession": "613021",
"database": "OMIM",
"url": "https://www.omim.org/entry/613021",
"species": "Human"
},
{
"accession": "ORPHA60033",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=60033",
"species": "Human"
}
]
},
{
"diseaseId": 413,
"name": "Hemimegalencephaly",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA99802",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99802",
"species": "Human"
}
]
},
{
"diseaseId": 649,
"name": "Multiple self-healing squamous epithelioma, susceptibility to; MSSE",
"description": "",
"synonyms": [
{
"name": "Multiple keratoacanthoma, Ferguson-Smith type"
}
],
"databaseLinks": [
{
"accession": "132800",
"database": "OMIM",
"url": "https://www.omim.org/entry/132800",
"species": "Human"
},
{
"accession": "ORPHA65748",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=65748",
"species": "Human"
}
]
},
{
"diseaseId": 183,
"name": "Cardiomyopathy, dilated, 1E; CMD1E",
"description": "",
"synonyms": [
{
"name": "Dilated cardiomyopathy"
},
{
"name": "Familial isolated dilated cardiomyopathy"
}
],
"databaseLinks": [
{
"accession": "DOID:12930",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_12930",
"species": "Human"
},
{
"accession": "601154",
"database": "OMIM",
"url": "https://www.omim.org/entry/601154",
"species": "Human"
},
{
"accession": "ORPHA154",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=154",
"species": "Human"
}
]
},
{
"diseaseId": 100,
"name": "Atrial fibrillation, familial, 9; ATFB9",
"description": "",
"synonyms": [
{
"name": "Familial atrial fibrillation"
}
],
"databaseLinks": [
{
"accession": "DOID:0050650",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050650",
"species": "Human"
},
{
"accession": "613980",
"database": "OMIM",
"url": "https://www.omim.org/entry/613980",
"species": "Human"
},
{
"accession": "ORPHA334",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=334",
"species": "Human"
}
]
},
{
"diseaseId": 925,
"name": "Thyrotoxic periodic paralysis",
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],
"databaseLinks": [
{
"accession": "ORPHA79102",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=79102",
"species": "Human"
}
]
},
{
"diseaseId": 1225,
"name": "Adult T-cell leukemia",
"description": "A T-cell leukemia that results in an abnormal elevation of lymphocytes.",
"synonyms": [
{
"name": "Adult T-cell leukemia/lymphoma"
},
{
"name": "ATLL"
}
],
"databaseLinks": [
{
"accession": "DOID:0050523",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050523",
"species": "Human"
}
]
},
{
"diseaseId": 1223,
"name": "Chronic granulomatous disease",
"description": "A diverse group of potentially life-threatening hereditary diseases caused by phagocyte bactericidal dysfunction resulting in an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation and widely distributed granulomas. Cross-references to several OMIM IDs.",
"synonyms": [
{
"name": "Bridges-Good syndrome"
},
{
"name": "CGD"
},
{
"name": "Congenital dysphagocytosis"
},
{
"name": "Quie syndrome"
}
],
"databaseLinks": [
{
"accession": "DOID:3265",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_3265",
"species": "Human"
},
{
"accession": "ORPHA379",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=379",
"species": "Human"
}
]
},
{
"diseaseId": 150,
"name": "Bleeding disorder, platelet-type, 13, susceptibility to",
"description": "",
"synonyms": [
{
"name": "Bleeding diathesis due to thromboxane synthesis deficiency"
}
],
"databaseLinks": [
{
"accession": "614009",
"database": "OMIM",
"url": "https://www.omim.org/entry/614009",
"species": "Human"
},
{
"accession": "ORPHA220443",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=220443",
"species": "Human"
}
]
},
{
"diseaseId": 429,
"name": "Hereditary myopathy with early respiratory failure",
"description": "",
"synonyms": [
{
"name": "Hereditary proximal myopathy with early respiratory failure"
}
],
"databaseLinks": [
{
"accession": "603689",
"database": "OMIM",
"url": "https://www.omim.org/entry/603689",
"species": "Human"
},
{
"accession": "ORPHA178464",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=178464",
"species": "Human"
}
]
},
{
"diseaseId": 835,
"name": "Rubinstein-Taybi syndrome 2; RSTS2",
"description": "",
"synonyms": [
{
"name": "Rubinstein-Taybi syndrome"
},
{
"name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
}
],
"databaseLinks": [
{
"accession": "DOID:1933",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_1933",
"species": "Human"
},
{
"accession": "613684",
"database": "OMIM",
"url": "https://www.omim.org/entry/613684",
"species": "Human"
},
{
"accession": "ORPHA353284",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=353284",
"species": "Human"
}
]
},
{
"diseaseId": 122,
"name": "Non-syndromic hereditary deafness",
"description": "",
"synonyms": [
{
"name": "nonsyndromic deafness"
}
],
"databaseLinks": [
{
"accession": "DOID:0050563",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_0050563",
"species": "Human"
}
]
},
{
"diseaseId": 141,
"name": "Benign paroxysmal torticollis of infancy",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA71518",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=71518",
"species": "Human"
}
]
},
{
"diseaseId": 648,
"name": "Multiple sclerosis",
"description": "",
"synonyms": [
],
"databaseLinks": [
{
"accession": "DOID:2377",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_2377",
"species": "Human"
},
{
"accession": "126200",
"database": "OMIM",
"url": "https://www.omim.org/entry/126200",
"species": "Human"
},
{
"accession": "ORPHA802",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=802",
"species": "Human"
}
]
},
{
"diseaseId": 1026,
"name": "CINCA syndrome",
"description": "",
"synonyms": [
{
"name": "Chronic infantile neurological cutaneous articular syndrome"
}
],
"databaseLinks": [
{
"accession": "607115",
"database": "OMIM",
"url": "https://www.omim.org/entry/607115",
"species": "Human"
},
{
"accession": "ORPHA1451",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1451",
"species": "Human"
}
]
},
{
"diseaseId": 923,
"name": "Thyroid hypoplasia",
"synonyms": [
],
"databaseLinks": [
{
"accession": "ORPHA95720",
"database": "Orphanet",
"url": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=95720",
"species": "Human"
}
]
},
{
"diseaseId": 995,
"name": "Neuropathy, hereditary sensory and autonomic, type IA; HSAN1A",
"description": "",
"synonyms": [
{
"name": "Hereditary sensory and autonomic neuropathy"
},
{
"name": "Hereditary sensory and autonomic neuropathy type 1"
}
],
"databaseLinks": [
{
"accession": "DOID:11533",
"database": "Disease Ontology",
"url": "http://purl.obolibrary.org/obo/DOID_11533",
"species": "Human"
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{
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"accession": "601005",
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"accession": "147950",
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"accession": "ORPHA2131",
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"name": "Birk-Barel syndrome"
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"accession": "612292",
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"accession": "ORPHA166108",
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"name": "Retinitis pigmentosa"
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"accession": "615565",
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"accession": "ORPHA791",
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